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PubMed2004

Calcitonin receptor gene and breast cancer: quantitative analysis with laser capture microdissection.

There is a growing body of evidence indicating that calcitonin (CT) and its receptor (CTR) is involved in cell growth, differentiation and tissue development. Using laser capture microdissection (LCM) and real-time reverse transcription polymerase chain reactions (RT-PCR), we have investigated CTR mRNA expression in 60 primary breast cancers, including 14 pairs of matched cancers and unaffected ductal epithelia from the same patients. Our results demonstrate that CTR mRNA was constantly expressed in normal ductal epithelium and in breast cancer. In the 14 cases where matched samples were available, a decrease in CTR mRNA expression was found in 9 breast cancers (64.3%), an increased CTR expression in 2 cases (14.3%) and no significant change in 3 cases (21.4%). In 60 cases of primary breast cancers, decreased CTR expression was found in 44 (73.3%), increased CTR expression was detected in 10 cases (16.7%) and no change was observed in 6 cases (10%). Decreased CTR expression was found more often in cases with lymph node metastasis (p = 0.0498) and lymphatic invasion (p = 0.0179). Also there was a decreased CTR expression in cases with an extensive intraductal component (p = 0.0543) and a high nuclear grade (p = 0.1934), although this was not statistically significant. Overall, we conclude that CTR mRNA was constantly expressed in unaffected ductal epithelium, whereas decreased CTR mRNA expression was frequently found in breast cancers, particularly in cases with lymph node metastasis and lymphatic invasion. These results suggest that CTR might be of great potential significance in breast cancer progression.

Adult↗
PubMed1999

The ligaments and annulus fibrosus of human adult cervical intervertebral discs.

STUDY DESIGN: Descriptive, microdissection study. OBJECTIVE: To determine the morphology of the human adult cervical intervertebral disc and its ligaments. SUMMARY OF BACKGROUND DATA: Some studies indicate that the cervical disc is distinctly different from the lumbar intervertebral disc, yet most clinical and anatomic texts appear content with extrapolating data from the lumbar spine. A detailed three-dimensional description of the cervical intervertebral disc and its surrounding ligaments is currently unavailable. METHODS: Whole cervical spinal columns were freed from 12 human adult embalmed cadavers, and the posterior elements and soft tissues were removed. Using microdissection, the longitudinal ligaments and the fibrous components of 59 cervical intervertebral disc were resected systematically. The orientation, location, and attachments of each stripped bundle of collagen were recorded photographically and in sketches. RESULTS: The cervical anulus fibrosus does not consist of concentric laminae of collagen fibers as in lumbar discs. Instead, it forms a crescentic mass of collagen thick anteriorly and tapering laterally toward the uncinate processes. It is essentially deficient posterolaterally and is represented posteriorly only by a thin layer of paramedian, vertically orientated fibers. The anterior longitudinal ligament covers the front of the disc, and the posterior longitudinal ligament reinforces the deficient posterior anulus fibrosus with longitudinal and alar fibers. CONCLUSIONS: The three-dimensional architecture of the cervical anulus fibrosus is more like a crescentic anterior interosseous ligament than a ring of fibers surrounding the nucleus pulposus.

Adult↗
PubMed2000

Genetic instability and aberrant DNA methylation in chronic hepatitis and cirrhosis--A comprehensive study of loss of heterozygosity and microsatellite instability at 39 loci and DNA hypermethylation on 8 CpG islands in microdissected specimens from patients with hepatocellular carcinoma.

A study was conducted to examine the significance of genetic instability and aberrant DNA methylation during hepatocarcinogenesis. Genomic DNA was extracted from 196 microdissected specimens of noncancerous liver tissue that showed no marked histologic findings or findings compatible with chronic hepatitis or cirrhosis, and 80 corresponding microdissected specimens of hepatocellular carcinoma (HCC) from 40 patients. Loss of heterozygosity (LOH) and microsatellite instability (MSI) were examined by polymerase chain reaction (PCR) using 39 microsatellite markers, and DNA methylation status on 8 CpG islands was examined by bisulfite-PCR. In noncancerous liver tissues, LOH, MSI, and DNA hypermethylation were found in 15 (38%), 6 (15%), and 33 (83%) of 40 cases, respectively. The incidence of DNA hypermethylation in histologically normal liver was similar to that in chronic hepatitis and cirrhosis, although neither LOH nor MSI was found in histologically normal liver. In cancerous tissues, LOH, MSI, and DNA hypermethylation were found in 39 (98%), 8 (20%), and 40 (100%) of 40 cases, respectively. CpG islands of the p16 gene and methylated in tumor 1, 2, 12, and 31 clones were frequently methylated in cancerous tissues, although neither the thrombospondin-1 nor the human Mut L homologue (hMLH1) gene was methylated. Absence of silencing of the hMLH1 gene by DNA hypermethylation is consistent with the low incidence of MSI in HCCs. The results of this study indicate that LOH and aberrant DNA methylation contribute to hepatocarcinogenesis; DNA hypermethylation in particular, which precedes or may even cause LOH, is as an early event during hepatocarcinogenesis.

Adult↗
PubMed1994

K-ras codon 12 mutations in biliary tract tumors detected by polymerase chain reaction denaturing gradient gel electrophoresis.

BACKGROUND: Although the prevalence of K-ras codon 12 mutations in biliary tract (BT) tumors has been addressed in previous studies, the results have shown large discrepancies in mutation frequency. METHODS: K-ras codon 12 mutations were investigated by polymerase chain reaction (PCR)-denaturing gradient gel electrophoresis (DGGE), a sensitive method for detecting DNA base changes, in a large series of BT tumors. RESULTS: In A-549 cells, which are known to contain a G to A change at the first base of K-ras codon 12, the mutation could be detected by DGGE even after 1:16 dilution with normal DNA. Tumor samples were microdissected from paraffin embedded tissue sections to ensure the presence of the tumor cells. K-ras mutations were detected in 13 of 23 bile duct tumors (56.5%) and in 9 of 23 gallbladder tumors (39.1%) by DGGE. However, no mutations were detected in normal, hyperplastic, and dysplastic BT epithelium or in tumorlike lesions, such as adenomyomatous hyperplasia, cholesterol polyps, and cystitis glandularis proliferans. The samples exhibiting abnormalities on DGGE showed a base change at K-ras codon 12 when examined by oligonucleotide hybridization. CONCLUSIONS: K-ras codon 12 mutations are seen often in BT tumors, and a combination of microdissection and PCR-DGGE is an effective approach for their detection.

Adult↗
PubMed1984

Glucuronidation of 7-hydroxycoumarin in periportal and pericentral regions of the liver lobule.

Rates of glucuronidation were measured at high substrate concentrations in specific zones of the liver lobule using micro-light guides placed on periportal and pericentral regions on the surface of livers from phenobarbital-treated rats. Livers were perfused with sulfate-free buffer under normoxic conditions, and fluorescence of free 7-hydroxycoumarin was monitored in the tissue. The formation of nonfluorescent 7-hydroxycoumarin glucuronide was then inhibited completely by perfusion with N2-saturated perfusate containing 20 mM ethanol. Under these conditions, fluorescence recorded from the surface of the liver was directly proportional to the concentration of substrate infused. The difference in 7-hydroxycoumarin fluorescence between N2 plus ethanol and normoxic perfusion was due to glucuronidation. Maximal rates of glucuronidation in periportal and pericentral regions of the liver lobule calculated with this new method were 9.6 and 35 mumoles/g/hr, respectively. Glucuronidation was half-maximal with 25-50 microM 7-hydroxycoumarin in both regions. Glucuronosyltransferase activity assayed in microdissected, freeze-dried tissue samples in vitro was 3-fold greater in pericentral areas than in periportal areas. This activity was half-maximal with 0.2 mM UDP-glucuronic acid and 54 microM 7-hydroxycoumarin in both regions of the liver lobule. Thus, the maximal capacity of the glucuronidation system determined in vitro is about 3-fold greater in pericentral than in periportal regions of the liver lobule, a difference which correlates well with measured rates of glucuronidation of 7-hydroxycoumarin in the two zones of the lobule in the intact, perfused liver.

Animals↗
PubMed2005

Atypical Burkitt lymphoma arising from follicular lymphoma: demonstration by polymerase chain reaction following laser capture microdissection and by fluorescence in situ hybridization on paraffin-embedded tissue sections.

A 77-year-old man with disseminated lymphadenopathy was referred to our hospital. An inguinal lymph node biopsy specimen had the appearance of composite lymphoma consisting of follicular lymphoma and atypical Burkitt lymphoma. The bone marrow was involved, and chromosomal analysis of the marrow showed t(8;14) and t(14;18) in identical cells. The patient underwent systemic chemotherapy but died of lymphoma 4 months later. Polymerase chain reactions performed on cells obtained from follicular and diffuse components by laser capture microdissection showed the two components to be clonally identical. Moreover, fluorescence in situ hybridization performed on paraffin-embedded tissue sections demonstrated an immunoglobulin heavy chain (IGH)/BCL2 translocation signal in both follicular and diffuse components, but an IGH/c-MYC translocation signal in only the diffuse component. Accordingly, the atypical Burkitt lymphoma arose from the follicular lymphoma as a consequence of the additional IGH/c-MYC translocation, then involving the bone marrow.

Aged↗
PubMed2002

DNA content and cell number determination in microdissected samples of breast carcinoma in situ.

Paraffin-embedded tissue (PET) is the specimen of choice for the histopathological diagnosis of cancer. PET has become a valuable resource for correlating cellular phenotype and genotype in microdissected lesions. A definitive improvement in this field has been the development of infra-red laser capture microdissection (LCM), which yields homogeneous populations of cells for DNA extraction and in vitro amplification by polymerase chain reaction (PCR). We report here a photographic and fluorescent technique for determining the number of nuclei and concentration of DNA obtained respectively by laser capture microdissection from paraffin-embedded breast cancer tissue. Breast biopsies containing carcinoma in situ were serially sectioned, mounted on plain glass slides and tumor cells were microdissected using a laser capture microscope. The DNA was extracted in digestion buffer and used directly as a template for PCR. In our protocols, each capture contained 21+/-5.4 nuclei with a DNA concentration of 115+/-5.3 pg. Also, a linear relationship was found between number of captures and DNA content (R2=0.9995). These results represent a novel contribution for a more precise correlation between phenotypic and genotypic diversity in cancer cells studied from microdissected paraffin-embedded tissue.

Breast Neoplasms↗
PubMed2002

High-quality RNA and DNA from flow cytometrically sorted human epithelial cells and tissues.

Microarray technologies have made possible comprehensive analyses of nucleic acid sequence and expression. However, the technology to obtain efficiently high-quality RNA and DNA suitable for array analysis from purified populations of neoplastic cells from human tissues has not been well addressed. Microdissection can enrich for populations of cells present in various tumor tissues, but it is not easily automated or performed rapidly, and there are tissues in which cells of interest cannot be readily isolated based on morphologic criteria alone. Here we describe a protocol for efficient RNA and DNA isolation from flow cytometrically purified whole epithelial cells from primary tissue. The aqueous reagent, RNAlater, which preserves RNA, allows immunolabeling and purification of whole epithelial cells by flow sorting without special instrument preparation to reduce RNase activity. We used real-time PCR to determine RNA quality afterflow sorting. High-quality RNA and DNA suitable for expression and genotype analysis can be readily obtained from flow cytometrically purified populations of neoplastic cells from human tissues.

Base Sequence↗
PubMed2006

Acidity induces c-Fos expression in a subpopulation of human colonic submucosal neurons.

Enteric neurons responding to chemical challenge of the mucosa have been characterized in animal models mainly in the myenteric plexus. However, in humans, the existence of enteric neurons responding to chemical stimulation of the mucosa remains currently unknown. Therefore, the aim of our study was to identify and characterize human submucosal neurons activated by mucosal challenge with butyrate or hydrochloric acid. Segments of human colon were placed in a modified Ussing chamber and incubated on the mucosal side with butyric acid (20 mM, pH 6.5), sodium butyrate (20 mM, pH 7.5), hydrochloric acid (10 mM, pH 6.5) or culture medium (pH 7.5). After 90 min of culture, tissues were fixed and microdissected to obtain whole mount preparation of submucosa containing the Meissner's plexus. Neuron specific enolase (NSE), c-Fos, vasoactive intestinal peptide (VIP) and substance P (SP) were detected using immunohistochemical methods. Tetrodotoxin (TTX, 1 microM) was used to inhibit neuronal activity. After 90 min of culture, butyric acid induced a significant 5.6-fold increase in the proportion of c-Fos-immunoreactive neurons compared to control (19 +/- 4% versus 4 +/- 1%, respectively, p < 0.001). 41 +/- 5% of c-Fos-immunoreactive neurons were VIP-immunoreactive and 3 +/- 2% were SP-immunoreactive. Butyric acid did not modify the proportion of VIP-immunoreactive neurons. The increase in c-Fos-immunoreactive neurons induced by butyric acid was reproduced with hydrochloric acid at the same pH but not with sodium butyrate. Finally, preincubation of the tissue with TTX prevented the effect of butyric acid. In conclusion, our results demonstrate that acidic mucosal challenge induced the activation of a population of human submucosal neurons with a specific neurochemical coding.

Butyrates↗
PubMed2002

Analysis of HLA expression in human tumor tissues.

Cancer cells can be detected and destroyed by cytotoxic T lymphocytes in many experimental tumor systems, and--as has been well-documented--in some human tumors. In humans however, most diagnosed tumors are not eliminated by T cells but grow steadily, invading and metastasizing until the host is destroyed. Evidence is accumulating that progressive tumor growth occurs not because the immune system is defective or deteriorated, but because the cancer cell is capable of developing a variety of strategies to escape immune recognition. In addition, cancer cells acquire new biological properties to generate invasive capacity in order to migrate and colonize new tissues. Major histocompatibility complex (MHC) antigens are molecules that are specialized in communicating with the T cell receptor and natural killer (NK) cell ligands. With the former, they use the interaction with peptides derived from processed cellular and exogenous proteins to monitor self and non-self status. With the latter, they determine the degree of activation and killing capacity of NK cells by interacting with NK receptors. Any change in the MHC profile of tumor cells (including classical and nonclassical MHC molecules) may therefore have a profound influence on the immune recognition and immune rejection of cancer cells. We have reviewed the data from our laboratory and other groups, and have presented a standardized procedure for analyzing the MHC profile of human tumors with special emphasis on the quality and laboratory use of the material obtained from microdissected tumor samples. Appropriate tissue processing is of particular relevance, since it is not possible to obtain tumor cell lines from most patients. Oncologists require rapid information on the MHC profile of the tumor if gene therapy is envisaged to restore normal MHC class I gene expression.

Alleles↗
PubMed2002

Analysis of odontoblast gene expression using a novel approach, laser capture microdissection.

Studying the mechanisms of molecular interactions in developing tissues demands sensitive molecular biological in vivo and in vitro techniques. Laser capture microdissection (LCM) allows for the isolation of mRNA in histological sections even from single cells, thus enabling the identification of in vivo gene expression products in closely circumscribed tissue areas. The aims of this study were to assess the optimal fixation, processing, and staining conditions to retrieve RNA from microdissected odontoblasts. Fluorometric assays and RT-PCR analysis of alpha 1(I) collagen, dentin sialophosphoprotein (Dspp), and osteocalcin (OC) confirmed that the total RNA isolated from day 0 and day 3 captured odontoblasts was sufficient in quantity and quality. Our results indicate that individual odontoblasts obtained by LCM are morphologically intact and chemically unaltered, allowing accurate molecular and biochemical analyses.

Animals↗
PubMed2005

Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension.

BACKGROUND: Primary pulmonary arterial hypertension (PAH) is a potentially devastating condition resulting from occlusion of the pulmonary arterioles by the formation of vascular lesions. Heterozygous mutations in the gene encoding the bone morphogenetic protein receptor type II (BMPR2) have been identified in both familial (FPAH) and idiopathic PAH. Mutant alleles are typically of low penetrance, indicating that other factors are required for the onset of PAH. Previous reports have suggested that the characteristic plexiform lesions in affected lungs are akin to neoplasia, showing monoclonal expansion and microsatellite instability. We hypothesized that in patients with germline mutations, BMPR2 might behave as a classic tumor suppressor gene, with somatic loss of the wild-type allele contributing to disease progression. METHODS AND RESULTS: To test this hypothesis, plexiform and concentric vascular lesions were serially microdissected from lung explant tissue derived from 7 FPAH cases. DNA was analyzed for loss of heterozygosity at BMPR2 and for microsatellite instability (MSI) at 5 loci. MSI was detected in 1 of 37 lesions at a single locus, BAT-26, whereas heterozygosity at BMPR2 was retained at all informative loci. We also describe a FPAH patient carrying biallelic constitutional missense mutations of BMPR2 who manifested disease at a stage and manner similar to heterozygous patients. CONCLUSIONS: Taken together, these data demonstrate that MSI is uncommon in FPAH and suggest that somatic loss of the remaining wild-type BMPR2 allele in heterozygous mutation carriers likely does not play a significant role in modulating the onset or progression of FPAH.

Adult↗
PubMed1995

Activity of the type 1 5 alpha-reductase exhibits regional differences in isolated sebaceous glands and whole skin.

The presence of 5 alpha-reductase (5 alpha-R) in skin may indicate that the androgen regulation of sebaceous glands and sebum production requires the local conversion of testosterone to dihydrotestosterone. The goals of this study were to identify which isozyme of 5 alpha-R (type 1 or type 2) is expressed in sebaceous glands from facial areas, scalp, and non-acne-prone areas; to determine if 5 alpha-R activity is concentrated in sebaceous glands; to assess whether there are regional differences in this enzyme's activity; and to test the effects of azasteroid inhibitors and 13-cis retinoic acid on 5 alpha-R in these tissues. Sebaceous glands were microdissected from facial skin, scalp, and non-acne-prone skin (arm, breast, abdomen, leg), and the activity of 5 alpha-R was determined. A total of 49 samples from 23 male and 21 female subjects without acne (age range, 16 to 81 years, 56 +/- 20 years [mean +/- SD]) was analyzed. The biochemical properties of the enzyme in each of the samples tested are consistent with those of the type 1 5 alpha-R. Minimal to no type 2 5 alpha-R was detected. The level of 5 alpha-R activity was significantly higher in the sebaceous glands compared to whole skin in facial skin (p = 0.047), scalp (p = 0.039), and non-acne-prone skin (p = 0.04). Enzyme activity in sebaceous glands from facial skin and scalp was significantly higher than in a comparable amount of sebaceous gland material obtained from non-acne-prone areas (32 +/- 6 [mean +/- SEM]), 35 +/- 7 (mean +/- SEM) versus 6.0 +/- 3.0 (mean +/- SEM) pmol/min/mg protein, p = 0.014 and 0.007, respectively). Finasteride and 13-cis retinoic acid were poor inhibitors of the enzyme with 50% inhibitory concentration values greater than 500 nM. These data demonstrate that in the skin from older patients without acne the type 1 isozyme of 5 alpha-R predominates, its activity is concentrated in sebaceous glands and is significantly higher in sebaceous glands from the face and scalp compared to non-acne-prone areas, and the action of 13-cis retinoic acid in the control of acne is not at the level of 5 alpha-R. Furthermore, we suggest that specific inhibition of the type 1 5 alpha-R may offer a viable approach to the management of sebum production and, hence, acne.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed2003

A novel technique for the examination of skin biopsies by laser capture microdissection.

BACKGROUND: Skin is an inherently heterogeneous tissue, thus the procurement of pure cell populations is critical for the accurate correlation of a molecular profile to a particular cell type or histological location. Laser Capture Microdissection (LCM) permits the efficient procurement of cells and mapping of genetic changes from histologically prepared samples. METHODS: This paper describes a robust LCM protocol established in our laboratory for the extraction of high quality DNA which sequenced from 100% of microdissected samples without the need for cloning. The unique properties of skin, in particular its strong intercellular adhesive forces, have dictated a significant modification to the normal procedure of tissue preparation to ensure reliable cell procurement. RESULTS: Using the methods outlined below we were able to precisely map the pattern of genomic mutations in our target gene of interest in normal skin, actinic keratosis and squamous cell carcinoma. CONCLUSIONS: The capability to select pure cell populations from the skin will revolutionise our ability to understand the processes involved in cutaneous tumourigenesis.

Biopsy↗
PubMed1986

Intestinal plexuses in Crohn's disease and ulcerative colitis in children: pathologic and microdissection studies.

The relative fraction of neural tissue in the plane of the myenteric (Auerbach) plexus (MEP) of ileum and colon of patients with Crohn's disease and ulcerative colitis was analyzed by point-count morphometric analysis of microdissected flat-mount ("circuit diagram") preparations of the plexus. Increase in the relative fraction of neural tissue (myenteric plexus hyperplasia) was seen in the MEP of some patients in both ileum and colon in both diseases. The frequency of ulceration or inflammation extending into the bowel wall deep enough to injure the various levels of the intestinal plexus system (mucosal plexus of Cajal; upper submucosal plexus of Meissner; deeper submucosal plexus of Henle; intermuscular plexus of Auerbach; outer muscular/serosal plexus of Stöhr) was analyzed for small intestine, appendix, and colon for patients with both diseases. As expected, Crohn's disease tends to produce deeper intestinal wall damage in ileum versus colon, and ulcerative colitis the reverse. The effect of such injury on local and more distal motor control of the intestine and on integrative functions of the intestinal plexus system appears not to have been considered previously. Since injury deep enough to damage any given plexus necessarily damages all overlying plexus levels, analysis of such effects appears a fruitful field for study.

Adolescent↗
PubMed2002

Application of inter-simple sequence repeat PCR to mouse models: assessment of genetic alterations in carcinogenesis.

Genomic instability is believed to play a significant role in cancer development by facilitating tumor progression and tumor heterogeneity. Inter-simple sequence repeat (inter-SSR) PCR has been proved to be a fast and reproducible technique for quantitation of genomic instability (amplifications, deletions, translocations, and insertions) in human sporadic tumors. However, the use of inter-SSR PCR in animal models of cancer has never been described. This new technique has been adapted in our laboratory for the analysis of spontaneous and induced mouse tumors. We established the best PCR conditions for each microsatellite-anchored primer and critically evaluated the reproducibility of the band patterns. We also studied the variation of the fingerprints between and within various inbred mouse strains, including wild-derived lines. Tumor-specific alterations were detected as gains, losses, or intensity changes in bands when compared with matched normal DNA. We quantitated the extent of alterations by dividing the number of altered bands in the tumor by the total number of bands in normal DNA (instability index). By means of inter-SSR PCR, we successfully analyzed genomic alterations in various mouse tumors, including spontaneous thymic lymphomas developed in Msh2 knockout mice as well as chemically induced squamous cell carcinomas and thymic lymphomas. Instability index values ranged between 0 and 9%, the highest levels observed in N-methyl-N-nitrosourea-induced thymic lymphomas generated in Trp53 (p53) nullizygote (-/-) mice. We report here, for the first time, the use of inter-SSR PCR to detect somatic mutations in mouse tumoral DNA, including laser-capture microdissected, methanol-fixed tissues. These PCR-based fingerprints provide a novel approach to assessing the number and onset of mutational events in mouse tumors and will help to understand better the mechanisms of carcinogenesis in mouse models.

Animals↗
PubMed2006

Protein clusters associated with carcinogenesis, histological differentiation and nodal metastasis in esophageal cancer.

We examined the proteomic background of esophageal cancer. We used laser microdissection to obtain tumor tissues from 72 esophageal squamous cell carcinoma cases and adjacent normal tissues in 57 of these cases. The 2D-DIGE generated quantitative expression profiles with 1730 protein spots. Based on the intensity of the protein spots, unsupervised classification distinguished the tumor tissues from their normal counterparts, and subdivided the tumor tissues according to their histological differentiation. We identified 498 protein spots with altered intensity in the tumor tissues, which protein identification by LC-MS/MS showed to correspond to 217 gene products. We also found 41 protein spots that were associated with nodal metastasis, and identified 33 proteins corresponding to the spots, including cancer-associated proteins such as alpha-actinin 4, hnRNP K, periplakin, squamous cell carcinoma antigen 1 and NudC. The identified cancer-associated proteins have been previously reported to be individually involved in a range of cancer types, and our study observed them collectively in a single type of malignancy, esophageal cancer. As the identified proteins are involved in important biological processes such as cytoskeletal/structural organization, transportation, chaperon, oxidoreduction, transcription and signal transduction, they may function in a coordinate manner in carcinogenesis and tumor progression of esophageal cancer.

Carcinoma, Squamous Cell↗
PubMed2001

Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers.

Myotonic dystrophy 1 is caused by the expansion of a CTG trinucleotide repeat on chromosome 19q13.3. The repeat lies in the 3' untranslated region of the myotonic dystrophy protein kinase gene (DMPK), and it has been hypothesised that the expansion alters the expression levels of DMPK and/or its neighbouring genes, DMWD and SIX5. Published data remain controversial, partly due to the mixed cell populations found in most tissues examined. We have microdissected human skeletal muscle biopsies from myotonic dystrophy 1 patients and controls and analysed gene expression at this locus for type I and type IIA fibres, using quantitative real-time reverse transcription-polymerase chain reaction. Levels of DMPK expression were specifically decreased in the type IIA fibres of myotonic dystrophy patients, below the levels found in controls. This suggests that DMPK expression is altered in this disease, suggesting significant pathological consequences.

Adult↗