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PubMed1990

Biosynthesis of enterobacterial common antigen in Escherichia coli. Biochemical characterization of Tn10 insertion mutants defective in enterobacterial common antigen synthesis.

Twelve independent Tn10 insertion mutants of Escherichia coli K12 were isolated that were defective in the synthesis of enterobacterial common antigen (ECA). The mutants were identified by screening a random pool of Tn10 insertion mutants for their ECA phenotype using a colony-immunoblot assay. All 12 of the Tn10 insertion mutants were found to be located in the chromosomal region of the rff-rfe genes. Four of the Tn10 insertions were in rfe genes while the remaining eight Tn10 insertions were in rff genes. All of the rfe::Tn10 insertion mutants were defective in the synthesis of GlcNAc-pyrophosphorylundecaprenol (C55-PP-GlcNAc, lipid I), the first lipid-linked intermediate involved in ECA synthesis. Biochemical characterization of the rff::Tn10 insertion mutants revealed that they were defective in various steps of ECA synthesis subsequent to the synthesis of lipid I. These defects included: (i) the inability to synthesize UDP-ManNAcA due to Tn10 insertions in the structural genes for UDP-GlcNAc-2-epimerase (rffE) and UDP-ManNAcA (N-acetyl-D-mannosaminuronic acid) dehydrogenase (rffD), (ii) defects in the synthesis of C55-GlcNAc-ManNAcA (lipid II) due to insertion of transposon Tn10 in the structural gene for the UDP-ManNAcA transferase (rffM), (iii) the inability to synthesize TDP-Fuc4NAc (4-acetamido-4,6-dideoxy-D-galactose) due to Tn10 insertions in the structural gene for the transaminase that catalyzes the conversion of TDP-4-keto-6-deoxy-D-glucose to TDP-4-amino-4,6-dideoxy-D-galactose (rffA), and (iv) defects in steps subsequent to the synthesis of C55-GlcNAc-ManNAcA-Fuc4NAc (lipid III). In addition, a re-examination of a mutant possessing the rff-726 lesion revealed that it was defective in the synthesis of lipid III due to a defect in the structural gene for the Fuc4NAc transferase (rffT).

Acetylglucosamine↗
PubMed1990

Recurrent carotid stenosis: a consequence of local or systemic factors? The influence of unrepaired technical defects.

To determine the influence of unrepaired technical defects as well as systemic risk factors for atherogenesis on carotid artery healing after endarterectomy, we conducted a prospective study using intraoperative duplex scanning with spectral analysis to establish the initial status of the artery (N = 131 arteries), and then we studied these vessels at regular postoperative intervals with the same technique (N = 108 arteries, 265 studies). The vessels were divided into the operated and nonoperated segments of the common, internal, and external carotid arteries, and both intraoperative image and flow data were tabulated by artery segment. The technical factors that were analyzed included defect size, defect type, adjacent segment defects, number of defects, shunt use, vessel reopening, and peak, mean, and end-diastolic frequency and velocity. The systemic risk factors studied were sex, hypertension, diabetes, smoking, randomly drawn total serum cholesterol and triglyceride levels, and perioperative aspirin and dextran use. Data were analyzed by linear logistic regression analysis. Among the technical factors, only intraoperative defect size was significantly associated with risk of recurrent stenosis (p = 0.0175). Although any defect size adversely affected the condition of the vessel during follow-up, the magnitude of this effect was small for smaller defects (size category 1: less than or equal to 40% stenosis or flap length less than or equal to 25% of vessel diameter). The systemic factors that were associated with risk of recurrent stenosis were hypertension (p = 0.0002), smoking (p = 0.0016), and randomly drawn total serum cholesterol level (p = 0.0116). The fact that the operated segments consistently fared worse during follow-up than did the nonoperated segments (p = 0.0044) undoubtedly reflects the inevitable trauma of the endarterectomy, but also emphasizes the important contribution of systemic risk factors in recurrent carotid stenosis. Risk factor modification may be the most effective method of ensuring the durability of carotid endarterectomy.

Carotid Artery Diseases↗
PubMed1990

Effect of weight-bearing on healing of cortical defects in the canine tibia.

UNLABELLED: It has been generally accepted that mechanical stimulation is an important factor in the promotion of formation of bone. Fracture-healing consists of periosteal bridging of the fracture, which achieves stability, and proliferation of endosteal bone to fill the defects between the ends of the bone. To evaluate the effect of weight-bearing on bone-healing, an operatively created defect in the tibial cortex was chosen as an experimental model. In one set of dogs (Group 1), a bilateral defect in the tibial cortex was created and weight-bearing was permitted on one tibia but not on the opposite one. In Group 2, a bilateral defect in the tibial cortex was made and weight-bearing was allowed on both tibiae. A third group of dogs of similar age (Group 3) had no tibial defects. Quantitative histomorphometry was used to measure formation and porosity of bone. Weight-bearing was measured with both static and dynamic techniques. Significantly less woven bone formed in the defects in the non-weight-bearing tibiae than in the weight-bearing tibiae. This appeared to be due to a disuse response in the underloaded tibiae, in which less bone formed, rather than to the formation of more bone in the weight-bearing tibiae. The data suggest that weight-bearing is a permissive factor, not a stimulus, for formation of woven bone in a tibial defect. CLINICAL RELEVANCE: This animal model supports the concept that lack of weight-bearing decreases the amount of woven bone that is formed in a healing tibial defect. The results of this study indicate that weight-bearing increases the formation of bone in fracture-healing.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1989

[Prognostic significance of large perfusion defects on thallium-201 myocardial scintigraphy in dilated cardiomyopathy].

To evaluate the prognostic significance of perfusion abnormalities, particularly large defects, in dilated cardiomyopathy (DCM), we performed thallium-201 myocardial scintigraphy and 24-hour ambulatory ECG monitoring in 27 patients. The abnormal scintigraphic patterns and the presence of ventricular tachycardia (VT) were correlated with causes of death during a follow-up period of 30.0 +/- 19.4 months. Eight patients had large defects (LD), 11 had multiple small defects (MSD), and eight had no defects (NL). The patients with LD had extensive ventricular akinesis in the region of the perfusion defect, significantly elevated LVEDP (LD 20.6 +/- 7.4 mmHg, MSD 15.5 +/- 7.6 mmHg, NL 10.3 +/- 2.3 mmHg: LD vs NL; p less than 0.01, MSD vs NL; p less than 0.05), and reduced ejection fraction (LD 23.9 +/- 9.1%, MSD 32.7 +/- 7.2%, NL 40.3 +/- 7.7%: LD vs MSD; p less than 0.05, MSD vs NL; p less than 0.01). VT was detected in 11 patients; among whom three had LD, six had MSD, and two had no defects. Among seven patients who died during follow-up (five of heart failure, one sudden death, and one non-cardiac death), five had LD and two had MSD. There were no deaths among patients without defects. Among 11 patients with VT, only one died suddenly. In conclusion, large scintigraphic defects correlated well with severe LV dysfunction, and this is an important variable in predicting outcomes in DCM.

Adult↗
PubMed1987

Cause and significance of cold bone defects on indium-111-labeled leukocyte imaging.

Although photon deficient defects on bone scan have received a great deal of interest, such defects in bones on Indium-111 (111In) leukocyte imaging have not been as well recognized. We therefore undertook a retrospective review to determine the frequency and significance of such "cold" defects on 111In-labeled leukocyte imaging. Three hundred thirty-two scans on 290 patients were reviewed and 40 cases of decreased activity involving bone were found, for an incidence of 12%. The causes of the defects were: fracture (eight), nontraumatic avascular necrosis (eight), solid tumor (six), prostheses and other orthopedic hardware (four), advanced age (four), radiation (three), leukemia (two), osteomyelitis (two), myelofibrosis (one), postlaminectomy (one), and idiopathic (one). To determine the frequency of cold defects in osteomyelitis, all 15 cases of osteomyelitis in this series were reviewed and 12 showed increased activity, two were cold, and one was normoactive. Thus, 14% of cases of osteomyelitis presented as cold defects. We conclude that cold bone defects do occur on 111In-labeled leukocyte scans and that the causes of such defects are similar to those reported for bone and bone marrow scanning.

Bone Diseases↗
PubMed1987

Relative afferent pupillary defect in eyes with retinal detachment.

Relative afferent pupillary defects were measured before and after surgery in 38 patients with unilateral rhegmatogenous retinal detachment. All 38 patients were measured preoperatively and the mean (+/- SD) pupillary defect was 1.4 +/- 0.7 log units. The afferent pupillary defect decreased in 36 of the 38 patients after successful scleral buckling operations (postoperative mean = 0.4 +/- 0.3 log units). Twenty patients had defects postoperatively of 0.3 log units or less, and seven of these had no measurable defects at all. A prediction model, using the variables of total number of peripheral quadrants detached and whether the macula was detached, yielded the following prediction equation: Relative afferent pupillary defect (log units) = 0.35 X (total quadrants) + 0.68 X macula detachment. This means that the detachment of each peripheral quadrant of retina caused about 0.35 log units of defect, whereas detachment of the macula caused 0.68 log units. The standard error of this estimate was rather large (+/- .65 log units); therefore, the size of the afferent pupillary defect can only roughly predict the extent of the retinal detachment and vice versa.

Humans↗
PubMed1983

A review of limb defects in a large fetus collection.

Although a considerable number of papers have been published dealing with the frequency and variety of genetic and nongenetic limb defects in newborns and to a lesser extent among embryos, little has been published about the range of limb defects among spontaneously aborted middle and late-term fetuses. This study reports on 133 limb defects from the Central Laboratory for Human Embryology (CLHE), Seattle, Washington. These constitute 34.1% of the total defective specimens in the collection and 5.4% of the total collection population. It is proposed that 30% of the limb defects described indicate a definite recurrence risk, 27% do not indicate recurrence, and the recurrence risk for 43% is unknown. The most interesting findings from this study include the observation that reduction defects affect predominantly the preaxial side of the upper limb and that addition defects (polydactyly) affect predominantly the postaxial side of the lower limb. The observation in relation to reduction defects agrees with U.S. newborn studies. The observation in relation to polydactyly is exactly opposite the studies of Latin American newborns and Japanese embryos.

Anencephaly↗
PubMed1995

Predicting pathologic fracture risk in the management of metastatic bone defects.

Guidelines for the prediction of pathologic fracture would facilitate the management of patients with metastatic bone defects. Unfortunately, existing clinical guidelines have not been validated, often run counter to engineering practice, and do not accurately predict the risk of fracture for many patients. To serve as a basis for improved guidelines, a factor of risk for a pathologic fracture is defined as the load applied to a bone divided by the load at which the bone fails. Failure loads for bones with metastatic defects have been measured in vitro, and depend on defect geometry, bone properties, and the type of loading. For a diaphyseal defect that destroys 50% of the cortex, strength reductions of between 60% and 90% can occur. The load-bearing capacity of a long bone with a diaphyseal defect also can be predicted using computer models if the geometry of the defect and properties of surrounding bone are known. Similarly, new methods that apply basic engineering principles to computed tomography data allow prediction of the load-bearing capacity of vertebrae with simulated defects. By contrast, the data presented here suggest that by using plane radiographs or computed tomographic (CT) examinations, experienced orthopaedic surgeons cannot accurately estimate the strength reductions or load-bearing capacity for proximal femurs with intertrochanteric defects. By combining new methods to predict the load-bearing capacity with estimated loads for activities of daily living, it is possible to calculate a factor of risk for pathologic fractures.

Biomechanical Phenomena↗
PubMed1976

Inherited biochemical defects affecting the kidney.

The identification of a disease entity as one that is the result of a heritable defect offers the physician an opportunity to intervene in a variety of ways. As emphasized, knowledge of the heritable pattern of a particular disease allows the physician an opportunity to counsel family members in personal disease risk and the offspring. Such genetic counseling results in a reduction of affected cases for many inherited diseases. There is every expectation that similar approaches would be effective for inherited renal diseases. The heritable diseases are a favored group for investigative purposes since these diseases result from a single gene defect no matter how plieotropic the effects of that defect. Thus the investigator is capable of constant probing with tools available for identifying that one event or component that lies at the basis of the disease. The emphasis of this chapter is on those inherited renal diseases for which we have reached a high level of understanding of this single defect. In many of these diseases a single enzyme is identified as deficient and is the presumed genetic defect. In others (cystinuria, RTA, and cystinosis) the precise biochemical answers appear close at hand. Thus a variety of therapeutic approaches to overcome either the gene defect or ill effects of the gene defect emerge for diseases involving the kidney and are listed in Table 7. For some of these diseases the new diagnostic technique of prenatal diagnosis can be used (Table 8). This genetic option provides couples at risk for bearing affected offspring with reduced risk. For a number of other diseases that are not identified by amniocentesis, this risk can be effectively lowered to acceptable levels by use of artificial insemination. Thus the inherited diseases of the kidney are amenable to medical intervention at a variety of levels. Such intervention can predictably lead to a lowering of both the incidence and consequences of these gene defects.

Acidosis, Renal Tubular↗
PubMed1993

Autoantibodies against the platelet glycoproteins (GP) IIb/IIIa, Ia/IIa, and IV and partial deficiency in GPIV in a patient with a bleeding disorder and a defective platelet collagen interaction.

To evaluate the physiologic importance of the different collagen receptors on platelets, we screened 806 patients admitted to the hospital because of hemorrhagic diathesis for eventual laboratory evidence of a pathologic platelet collagen interaction, and found 5 patients with an isolated deficiency in collagen-induced platelet aggregation. Four of these five patients had a partial defect, one had a complete defect. The structural and functional analysis of the platelets from the patient with a complete defect showed a deficiency in glycoprotein (GP) IV and autoantibodies against GPIIb/IIIa, GPIa/IIa, and GPIV. Patient plasma had only a minimal effect on normal control platelets and Naka-negative platelets. The analyses of the defect in the patient and of the data in the literature suggest that a single defect may not result in clinical bleeding (GPIV-deficient patients do not bleed), but may become symptomatic in combination with another defect such as the autoantibodies against GPIa/IIa, GPIV, and/or GPIIb/IIIa, all of which are involved in platelet collagen interactions (three of four of our immune thrombocytopenic purpura patients with anti-GPIV and anti-GPIIb/IIIa autoantibodies had a bleeding disorder). We hypothesize that it is the synergism of two abnormalities that results in the defective function, a mechanism that is in agreement with earlier studies on platelet collagen interaction that suggests that a double defect in platelet collagen interactions is required to become clinically apparent.

Adult↗
PubMed1994

Guided tissue regeneration in surgically created 3-walled and 2-walled periodontal osseous defects in monkeys.

BACKGROUND: In the previous clinical studies, guided tissue regeneration resulted in periodontal regeneration after treatment of 3-walled intrabony defects. The purpose of the present study was to compare the regenerative potential of 3-walled and 2-walled surgically created periodontal osseous defects in monkeys following placement of a biocompatible, porous polytetrafluorethylene membrane. METHODS: In each of 8 Taiwan monkeys, 2 maxillary and 2 mandibular teeth were selected for experimentation. Using a diamond bur, 3-walled osseous defects were created on the distal of the maxillary cuspid and the mesial of the mandibular second bicuspid of one side. Two-walled (lingual wall and proximal wall) osseous defects were created on the contralateral side. After root planing, teflon membranes were applied to the mandibular test teeth. In the maxilla, all procedures were the same except for the placement of teflon membranes. Two monkeys were sacrificed 3, 6 and 9 months after operation and prepared for histologic and histometric evaluation. Reentries were performed while the other 2 monkeys were terminated 11 months after operation. RESULTS: Histologic evaluation revealed that new connective tissue attachments were found to a greater extent in the 3-walled periodontal osseous defects treated with teflon membranes compared with the non-membrane sites (p = 0.05). More periodontal regeneration was not predictably obtained in the surgically created 2-walled osseous defects when the teflon membranes were used. CONCLUSIONS: For 3-walled periodontal osseous defects, guided tissue regeneration was superior to conventional periodontal flap surgery. For 2-walled defects, new connective tissue attachment could not be predictably achieved.

Alveolar Bone Loss↗
PubMed1994

Sublingual isosorbide dinitrate to improve technetium-99m-teboroxime perfusion defect reversibility.

UNLABELLED: Previous studies demonstrate perfusion defect reversibility in 201Tl reinjection imaging performed after the administration of nitrates. This study tests whether the acute sublingual administration of isosorbide dinitrate (ISDN) could improve the capability of 99mTc-teboroxime to detect reversibility in exercise-induced perfusion defects. METHODS: Ten patients with previous myocardial infarction underwent exercise, redistribution and reinjection 201Tl imaging, 99mTc-teboroxime exercise and rest scans. Following the latter, 5 mg sublingual ISDN were given, 99mTc-teboroxime was reinjected and images collected. RESULTS: The total defect score/patient in the 201Tl images was 10.5 +/- 3.1 (mean +/- s.d.), decreasing to 7.4 +/- 2.7 after redistribution (p < 0.02) and to 4.8 +/- 2.1 after reinjection (p < 0.01 versus redistribution). The total defect score in 99mTc-teboroxime exercise images was 12.7 +/- 3.1 (p < 0.05 versus 201Tl exercise), decreasing to 7.3 +/- 3.3 at rest (p < 0.01 versus exercise, NS versus 201Tl redistribution) and to 5.6 +/- 2.6 in ISDN images (p < 0.02 versus rest, p < 0.05 versus 201Tl redistribution, NS versus reinjection). Of the 44 abnormal segments in 201Tl exercise images, the redistribution scan identified 26 defects as reversible and 18 as fixed. After reinjection, 37 defects appeared reversible and only seven fixed (p < 0.005 versus redistribution). Stress-rest 99mTc-teboroxime classified 33 segments as reversible and 11 as fixed (NS versus both 201Tl protocols). After ISDN, the uptake score increased in 19 segments. Therefore, 37 were classified as reversible and seven as fixed defects (p < 0.01 versus 201Tl redistribution, NS versus 201Tl reinjection). CONCLUSIONS: Sublingual ISDN before 99mTc-teboroxime rest injection seemed to improve the tracer capability of detecting reversibility in exercise-induced perfusion defects.

Administration, Sublingual↗
PubMed1994

Persistent twenty-four hour SPECT thallium-201 defects, plasma thallium-201 concentrations and PET metabolic viability.

Previous studies have shown that defects on four hour thallium-201 redistribution images often exhibit late reversibility, suggesting that the thallium-201 scintigraphic assessment of myocardial viability might be influenced by delayed redistribution imaging. To assess tissue metabolic activity in segments with late thallium-201 defects, positron emission tomography (PET) with 13NH3 and 18FDG was performed in 26 coronary artery disease patients with left ventricular dysfunction undergoing twenty-four hour SPECT thallium-201 scintigraphy. In 13 patients, plasma thallium-201 levels were obtained at the time of SPECT study and integrated tracer concentrations were determined one, two, four and twenty-four hours following injection. On circumferential profile image analysis of the PET images, ischemia was defined by preserved glucose metabolism in hypoperfused myocardium while infarction was identified by concordant reductions in both perfusion and glucose metabolism. Nineteen patients had stress-redistribution SPECT studies and seven had rest-redistribution SPECT studies. Using a semi-quantitative scoring system, four experienced observers visually identified 100 fixed, 17 partially reversible and twelve completely reversible segmental SPECT thallium-201 defects. On PET, metabolic activity was identified in 51 (51%) fixed defects (21 PET ischemia, 30 PET normal) and nine (53%) partially reversible defects (five PET ischemia, four PET normal). Of the twelve completely reversible thallium-201 defects, six (50%) were normal on PET, five (42%) had PET ischemia and one (8%) had PET infarction. The relative number of fixed thallium-201 defects with metabolic activity on PET did not depend on whether a stress or rest thallium-201 study was performed, or on whether the plasma thallium-201 integral concentration was high or low relative to mean values at any time point. Despite delayed redistribution imaging, PET imaging identifies glucose metabolic activity, and therefore residual tissue viability, in the majority of fixed twenty-four hour thallium-201 defects.

Aged↗
PubMed1994

[Artifactual defect of inferior myocardium on 123I-metaiodobenzylguanidine myocardial SPECT: characteristic findings and preventive method on phantom study].

Discordance between planar and SPECT image of inferior myocardial defect on 123I-metaiodobenzylguanidine myocardial scintigraphy (MIBG) was occasionally observed in the clinical studies. The purpose of this study is to clarify the existence of artifactual myocardial defect on MIBG SPECT image. Phantom study was performed in various kinds of situation using triple gamma camera. Artifactual defect adjacent to the liver was significantly observed in the case of increased liver/heart uptake ratio more than 2:1. Artifactual defect was markedly observed in the 180 degrees than that in the 360 degrees SPECT acquisition. To avoid artifactual defect during SPECT acquisition, liver phantom was moved down to the foot direction (vanishing liver position). In this phantom position, artifactual defect adjacent to the liver was not observed on reconstructed myocardial SPECT image. The vanishing liver position was also applicable to human study. Human body was inclined to right side at an angle of 15 degrees, artifactual defect could be avoided. Further study is needed to analyze the cause of this artifactual defect and to conform the preventive method with vanishing liver position in the routine myocardial SPECT examination.

3-Iodobenzylguanidine↗
PubMed1993

Classification of mandibular defects.

A classification of mandibular defects based on functional as well as aesthetic factors is presented. By taking into account the difficulties in restoring form and function and not simply relying on traditional anatomic landmarks, it is hoped that this method will allow different types of reconstructions to be fairly evaluated. It also should help surgeons to tailor individual reconstructive techniques to specific clinical situations. Major difficulties in mandibular reconstruction arise when a condyle requires replacement, when there is a mucosal and/or skin component to the defect, and when the area to be reconstructed involves the anterior arch. The classification is based on three upper-case and three lower-case characters: H, C, L and o, m, s. H defects are lateral defects of any length, including the condyle but not significantly crossing the midline; L defects are the same only without the condyle; C defects consist of the entire central segment containing the four incisors and the two canines. Combinations of these letters are possible (an angle-to-angle defect, for example, is represented as LCL). Thus H and L defects may reach or even extend slightly beyond the midline but are not referred to as LC or HC unless they contain the entire central segment. The letters o (neither a skin nor a mucosal component), s (skin), m (mucosa), and sm (skin plus mucosa) are added to denote the epithelial requirement.

Bone Plates↗
PubMedDate not supplied

Focal fatty infiltration: a cause of nontumorous defects in the left hepatic lobe during CT arterial portography.

OBJECTIVE: The purpose of this work was to determine the frequency and significance of characteristic nontumorous low attenuation defects found in the left hepatic lobe during CT arterial portography (CTAP). MATERIALS AND METHODS: Eighty CTAPs performed over a 17 month period were retrospectively reviewed to identify nonsegmental low attenuation defects adjacent to the falciform ligament, gallbladder, or porta hepatis. Twenty-four separate defects were present in 14 of 80 (18%) patients. Cases in which a defect was present were compared with MR, surgical findings, and pathology reports. RESULTS: The defects were oval or triangular in shape with a mean maximum diameter of 1.7 cm (range 1-5 cm). None of these defects were identified on MR in the 12 patients who underwent T1, T2, and STIR MR; however, 3 showed dropout of signal on chemical shift MR, suggesting fatty infiltration. In the 12 patients who underwent surgery, no lesion was shown to represent tumor. Two intraoperative biopsies of the area of the defects showed fatty infiltration. CONCLUSION: Nontumorous low attenuation defects adjacent to the gallbladder, falciform ligament, or porta hepatis are a pitfall of CTAP and can be associated with focal fatty infiltration, as well as decreased perfusion due to technical factors or a variation in hepatic vascular supply.

Artifacts↗
PubMed1993

The underestimation of segmental defect size in radionuclide lung scanning.

Criteria used to place ventilation-perfusion lung scans into categories with different probabilities for pulmonary embolism depend largely on the size and anatomical distribution of defects recognized. These criteria assume that actual segmental defects appear segmental on the lung scan. This study examined the accuracy with which four experienced observers were able to estimate the size of defects of known anatomical location and size, using images of segmental defects in ventilation produced with a bronchoscopic technique and 81mKr. Of the 24 segmental defects produced in this study, 17% were interpreted as being < 25% of a segment; 23% were interpreted as being 25%-50% of a segment; 17% were interpreted as 50%-75% of a segment; 40% were interpreted as being 75%-100% of a segment and 4% were interpreted as being > 100% of a segment. Intra- and interobserver agreement as assessed by the Kappa statistic varied with the number of size categories used but was generally poor. Underestimation of defect size observed in this study may explain why many patients with pulmonary embolism do not have high probability scans. We conclude that the subjective impression of the size of a defect on a lung scan is an unreliable indication of a defect's true segmental or subsegmental nature and that scoring systems based on these criteria should be viewed with caution.

Bronchoscopy↗
PubMed1995

Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines.

The instability of short repetitive sequences in tumor DNA can result from defective repair of replication errors due to mutations in any of several genes required for mismatch repair. Understanding this repair pathway and how defects lead to cancer is being facilitated by genetic and biochemical studies of tumor cell lines. In the present study, we describe the mismatch repair status of extracts of 22 tumor cell lines derived from several tissue types. Ten were found to be defective in strand-specific mismatch repair, including cell lines from tumors of the colon, ovary, endometrium, and prostate. The repair defects were independent of whether the signal for strand specificity, a nick, was 5' or 3' to the mismatch. All 10 defective cell lines exhibited microsatellite instability. Repair activity was restored to 9 of these 10 extracts by adding a second defective extract made from cell lines having known mutations in either the hMSH2 or hMLH1 genes. Subsequent analyses revealed mutations in hMSH2 (4 lines) and hMLH1 (5 lines) that could explain the observed microsatellite instability and repair defects. Overall, this study strengthens the correlation between microsatellite instability and defective mismatch repair and the suggestion that diminuition in mismatch repair activity is a step in carcinogenesis common to several types of cancer. It also provides an extensive panel of repair-proficient and repair-deficient cell lines for future studies of mismatch repair.

Adaptor Proteins, Signal Transducing↗