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PubMed2002

Muscular dystrophies and other inherited myopathies.

It is certain that more inherited neuromuscular disorders of dogs and cats will be identified as the ability of practicing veterinarians to recognize disorders of muscle, nerve, and neuromuscular junction improves and newer diagnostic tests become available. Two specific points are critical. Before DNA-based genetic tests and specific therapies can be developed, an accurate description of the problem, clinically and histopathologically, must be performed. This is particularly important for the accuracy of a pedigree analysis, because inclusion of dogs with unrelated problems would alter the interpretation. Second, animals with inherited breed-associated disease should not be bred for generation of companion animals.

Animals↗
PubMed1988

Inherited coagulation disorders.

Inherited coagulation disorders have been diagnosed in many breeds of dogs as well as in mongrels and cats. This article presents the different coagulation factor deficiencies that are known to exist in small animals. A description is given of each coagulation factor along with the relevant clinical signs, inheritance, and the breeds affected. Suggestions are also given for the diagnosis and therapy of these deficiencies.

Afibrinogenemia↗
PubMed1993

An ultrasound renal cyst prevalence survey: specificity data for inherited renal cystic diseases.

This study documents the prevalence of simple renal cysts at various ages to produce a table of age-specific specificity values. The specificity of diagnosis for inherited renal cystic conditions depends primarily on the prevalence of simple renal cysts in disease-free subjects. To provide specificity data useful for the ultrasound assessment of individuals at genetic risk of having a renal cyst-forming condition, a prospective ultrasound study was performed. The urinary tract was examined in detail in 729 individuals referred for investigation of symptoms unrelated to the urinary tract and who had normal renal function. The prevalence of individuals with at least one renal cyst was 0% in those aged 15 to 29 years, 1.7% in those aged 30 to 49 years, 11.5% in those aged 50 to 70 years, and 22.1% in those aged 70 years and above. The prevalence of bilateral renal cysts (at least one cyst in each kidney) was 1% in those aged 30 to 49 years, 4% in those aged 50 to 70 years, and 9% in those aged 70 years and above. A table is provided that allows specificity estimates for differing diagnostic criteria together with 95% confidence limits for each estimate. In the younger age groups, bilateral renal cysts, particularly bilateral cysts with one or both kidneys having more than one cyst, are relatively uncommon. A reduced threshold for suspecting inherited renal cystic disease in younger individuals at high genetic risk will continue to have high specificity while improving the sensitivity of ultrasound diagnosis.

Adolescent↗
PubMed1996

Modification of disease progression in rats with inherited polycystic kidney disease.

The most common inherited form of human polycystic kidney disease (PKD), autosomal dominant PKD (ADPKD), is a leading cause of chronic renal failure, but has a variable clinical presentation, with end-stage renal disease occurring in only 25% to 75%. Several findings are consistent with the idea that factors in addition to the primary mutation can affect the progression of cystic change and chronic renal failure in PKD. Epithelial cell proliferation is a central element in the pathogenesis of renal cysts. We postulated that the superimposition of a growth-promoting stimulus might promote more intense proliferation of cystic epithelial cells in inherited cystic disease. To study this, we subjected Han:SPRD rats, with a form of ADPKD that resembles human ADPKD, from 4 until 10 weeks of age to diets designed to promote tubule cell growth. The diets included supplemental NH4Cl (280 mmol/L in drinking water), limited dietary K+ (0.016% of diet; control diet was 1.1% K+), and increased dietary protein (50%; control diet was 23% protein). Treatments designed to promote cell growth caused more aggressive PKD in males and females, worsened azotemia in males, and resulted in azotemia in females (which normally develop PKD but not azotemia at the ages studied). NH4Cl, K+ restriction, and increased dietary protein each caused greater kidney enlargement in males (kidney weight/body weight ratios increased by 35%, 78%, and 105%, respectively) and worsened azotemia in males (serum urea nitrogen values increased by 63%, 514%, and 224%, respectively); in contrast, decreased dietary protein (4%) caused less severe PKD in males (kidney weight/body weight ratios decreased by 43%) and lessened azotemia in males (serum urea nitrogen values decreased by 49%). Similarly, NH4Cl and K+ restriction caused greater kidney enlargement in females (kidney weight/body weight ratios increased by 206% and 203%, respectively) and caused azotemia in females (serum urea nitrogen values increased by 177% and 430%, respectively). On the basis of these results, we conclude that growth-promoting stimuli can alter the expression of hereditary renal cystic disease. These findings demonstrate that the progression of hereditary renal cystic disease can be altered by factors in addition to the primary genetic defect.

Ammonium Chloride↗
PubMed1997

A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity.

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a deficiency of alanine:glyoxylate aminotransferase (encoded by the AGXT gene). Primary hyperoxaluria type 1 is characterized by the elevated urinary excretion of oxalate and glycolate, and the deposition of insoluble calcium oxalate in the renal parenchyma and urinary tract. In the present study, we investigated an unusual family containing four affected individuals in two different generations. Based on our genetic, enzymic, metabolic, and clinical analyses, we have come to the following conclusions. First, although the pattern of inheritance of PH1 is usually horizontal (ie, all patients in the same generation), as expected for an autosomal recessive disease, it can sometimes show a vertical (pseudodominant) pattern of inheritance (ie, patients in more than one generation) due to the segregation within a family of three, rather than two, mutant AGXT alleles. Second, affected members of such a family can manifest very different clinical phenotypes both within and between generations. Although the clinical differences between generations might be at least partly due to differences in AGXT genotype, differences can equally occur within the same generation in individuals who possess the same AGXT genotype. Finally, individuals with PH1 at the level of the AGXT genotype might remain asymptomatic and undiagnosed for many years. The consequences of these findings for the clinical management and genetic counseling of families with PH1 are profound and wide-ranging.

Adolescent↗
PubMed2001

Common variable immunodeficiency (CVID) in a family: an autosomal dominant mode of inheritance.

BACKGROUND: Common variable immunodeficiency (CVID) is characterised by a late onset deficiency of immunoglobulins resulting in recurrent infectious and non-infectious ailments. Most cases are sporadic but occasional familial clustering has been described. We present an extensively affected family with CVID in three consecutive generations. METHODS: We conducted a study in this family to establish clinical phenotype, to clarify the mode of inheritance and to attempt to characterise the immune disturbance by determining immunoglobulin concentrations and B- and T-cell analysis. RESULTS: We describe six patients with CVID in three consecutive generations. In addition, we encountered 10 family members with dysimmunoglobulinemia. B-cell counts were normal, but T-cell analysis showed slightly abnormal results. CONCLUSIONS: The six cases of overt late onset hypogammaglobulinemia are compatible with an autosomal dominant mode of inheritance. The family members with dysimmunoglobulinemia may be at risk to develop overt CVID in the future, in view of the gradual course of progression of the disease in the clinically affected family members. B- and T-cell analysis are inconclusive though may support a possible defect in T-cell function to be involved. To further study this remarkable family and attempt to clarify pathogenesis, we are planning DNA linkage analysis in the near future.

Adult↗
PubMed2000

Is testing for inherited coagulation inhibitor deficiencies in young stroke patients worthwhile?

OBJECTIVE: To test the hypothesis that in patients under age 50, with a first, arterial, ischemic cerebral infarct, whose family history and medical history do not suggest an inherited coagulation inhibitor deficiency, the yield of a laboratory search for these disorders will be low. MATERIALS AND METHODS: In 55 such patients under age 50, we systematically searched for deficiencies of protein C, protein S, and antithrombin III. RESULTS: No abnormalities of protein C or antithrombin III were found. One patient had a deficiency of protein S, which was most likely acquired rather than inherited. CONCLUSIONS: In patients who lack clinical features of a prothrombotic state, the yield of testing for protein C, S and AT III deficiency is likely to be low.

Adult↗
PubMed1998

Paroxysmal tonic upgaze of childhood with ataxia: a benign transient dystonia with autosomal dominant inheritance.

Paroxysmal tonic upgaze of childhood with ataxia is a rare form of age related dystonia. Out of 12 previously reported cases, three had a clinical history of similar symptoms occurring in at least one first degree relative belonging to the same or two consecutive generations. Autosomal dominant inheritance was therefore hypothesized. We report on a family in which the disorder appeared in three consecutive generations between ages 6 and 11 months, disappearing gradually and spontaneously between ages 18 to 24 months. All affected individuals had normal neurologic development. The pedigree analysis of previously reported cases and of the family reported herein provides strong evidence that the disorder may be inherited as an autosomal dominant trait and represents a form of transient paroxysmal dystonia with benign long-term prognosis.

Ataxia↗
PubMed1999

Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid.

OBJECTIVES: The purpose of this study was to describe the clinical and molecular features of a large family with maternally inherited cardiomyopathy (MICM). BACKGROUND: Recently, several mitochondrial deoxyribonucleic acid (mtDNA) point mutations have been associated with MICM. However, the distinctive clinical and morphologic features of MICM are not fully appreciated. This is partially due to the small size of the reported pedigrees, often lacking detailed clinical and laboratory information. METHODS: Clinical and genetic analysis of the family was carried out. RESULTS: Echocardiography showed mostly symmetrical hypertrophic cardiomyopathy in 10 family members. The illness had an unfavorable course. Progressive heart failure occurred in three subjects, who eventually died; one individual underwent heart transplantation. Electrocardiographic or echocardiographic signs of cardiac hypertrophy in the absence of significant clinical complaints were observed in five subjects. Neurologic examination was normal. The mutation was detected in blood from all available subjects. Abundance of mutated molecules ranged between 13% and 100% of total mtDNA genomes. The severity of the disease could not be foreseen by the proportion of mutation in blood. CONCLUSIONS: This report contributes a better description of the clinical aspects of MICM and provides important clues to distinguish it from hypertrophic cardiomyopathy. We suggest that mtDNA mutations, particularly in the transfer ribonucleic acid for isoleucin, should be systematically searched in patients with MICM. The identification of an underlying maternally inherited mitochondrial DNA defect in familial cases of cardiomyopathy may considerably influence the management and genetic counseling of affected patients.

Adolescent↗
PubMed2003

Persistent oxidative stress after ionizing radiation is involved in inherited radiosensitivity.

The SW620IR1 cell line was derived from SW620 human colon cells surviving to ionizing radiations. It shows an increased radiosensitivity and a higher yield of spontaneous chromosomal aberrations. In order to check whether altered reactive oxygen intermediates (ROI) metabolism is involved in this inherited phenotype, we compared the two cell lines for their radiation-induced modifications at the level of ROI production, antioxidant activities, and chromosomal aberrations. Compared to SW620, SW620IR1 cells exhibit a higher and more persistent ROI induction after various doses of ionizing radiations and a higher yield of dicentric chromosomes. They are also characterized by lower basal activities of glutathione peroxidase and manganese-containing superoxide dismutase, and lower ability to induce these antioxidant defenses after irradiation. Resumption of cell growth after irradiation coincides with maximal induction of antioxidant activities and normalization of ROI concentration. However, at that time radiation-induced chromosomal aberrations are not completely eliminated, leading to the proliferation of genetically unstable cells. These results indicate that the inherited sensitivity of SW620IR1 cells is associated with altered antioxidant activities resulting in higher and more prolonged oxidative stress after radiation exposure. They also suggest that the normalization of ROI levels allows these p53 mutant cells to resume proliferation although high levels of DNA damages are still persisting, thereby explaining the chromosomal instability observed as a delayed effect of radiation exposure.

Antioxidants↗
PubMed2001

Asymmetric inheritance of radial glial fibers by cortical neurons.

Recent studies demonstrated the neuronogenic role of radial glial cells (RGCs) in the rodent. To reveal the fate of radial glial processes, we intensively monitored divisions of RGCs in DiI-labeled slices from the embryonic day 14 mouse cortex. During RGC division, each pia-connected fiber becomes thin but is neither lost nor divided; it is inherited asymmetrically by one daughter cell. In divisions that produce a neuron and a progenitor, the neuron inherits the pial fiber, also grows a thick ventricular process for several hours, and is therefore indistinguishable from the progenitor RGC. The ventricular process in the radial glial-like neuron ("radial neuron") then collapses, leading to ascent of the neuron by using the "recycled" radial fiber.

Aging↗
PubMed2000

Familial temporal lobe epilepsy autosomal dominant inheritance in a large pedigree from southern Italy.

To further elucidate the inheritance pattern and range of phenotypic manifestations of benign familial temporal lobe epilepsy (FTLE), we report a large family recently identified in southern Italy. There were 8 patients (4 men), ranging in age from 31 to 68 years in three generations. One affected patient was deceased at the time of the study. Genealogical study strongly supported autosomal dominant inheritance with incomplete penetrance, as three unaffected individuals transmitted the disease. Clinical anticipation could not be assessed because of the ascertainment method. Male to male transmission occurred. Identifiable antecedents for seizures were present in only two patients, who had a simple febrile convulsion and a closed head trauma, respectively. Migraine was overrepresented in this family. Onset of seizures ranged from 17 to 52 years (mean: 27 years). All patients had weekly simple partial seizures suggestive of temporal origin with vegetative or experiential phenomena. Very rare partial complex seizures occurred in 6/7 patients. One had two generalized nocturnal seizures as well. Two had previously been misdiagnosed as having gastritis or panic attacks, and one had not been diagnosed. Interictal anteromesiotemporal spiking was seen in 5/7 patients, and occurred mostly during NREM sleep. Neurological examination, brain CT or MR scans were normal. Antiepileptic medication always controlled the seizures.

Adult↗
PubMed2000

Retinitis pigmentosa: distribution of inheritance patterns in a VA blind rehabilitation center population.

Objectives: This purpose of this study was to characterize retinitis pigmentosa (RP) patients at the Southeastern Blind Rehabilitation Center (SBRC) by inheritance pattern, and compare the results with similar studies. Study Design: Records of all RP patients who were in the blind rehabilitation program at the SBRC between 1989 and 1993 were reviewed (n=50). Patients were included in the study who could be personally contacted and whose records were complete (n=43). Pedigrees were obtained through review of records and patient interviews. Results: The analysis showed 24 patients (55.8%) were simplex (no family history of RP), 8 patients (18.6%) were autosomal dominant, 4 patients (9.3%) were probable autosomal dominant, 4 patients (9.3%) were autosomal recessive, 2 patients (4.7%) were probable autosomal recessive and 1 patient (2.3%) was X-linked recessive. Conclusions: Unique trends were apparent in the distribution of inheritance patterns. Clinicians should be aware of the large number of simplex patients found in this and the majority of similar studies.

Journal Article↗
PubMed2002

Inheritance of the endoplasmic reticulum and Golgi apparatus.

Yeast and mammalian cells use a variety of different mechanisms to ensure that the endoplasmic reticulum and Golgi apparatus are inherited by both daughter cells on cell division. In yeast, endoplasmic reticulum inheritance involves both active microtubule and passive actin-based mechanisms, while the Golgi is transported into the forming daughter cell by an active actin-based mechanism. Animal cells actively partition the endoplasmic reticulum and Golgi apparatus, but association with the mitotic spindle-rather than the actin cytoskeleton-appears to be the mechanism

Actins↗
PubMed2002

Dominantly inherited, non-coding microsatellite expansion disorders.

Dominantly inherited diseases are generally caused by mutations resulting in gain of function protein alterations. However, a CTG expansion located in the 3' untranslated portion of a kinase gene was found to cause myotonic dystrophy type 1, a multisystemic dominantly inherited disorder. The recent discovery that an untranslated CCTG expansion causes the same constellation of clinical features in myotonic dystrophy type 2 (DM2), along with other recent discoveries on DM1 pathogenesis, have led to the understanding that both DM1 and DM2 mutations are pathogenic at the RNA level. These findings indicate the existence of a new category of disease wherein repeat expansions in RNA alter cellular function. Pathogenic repeat expansions in RNA may also be involved in spinocerebellar ataxia types 8, 10 and 12, and Huntington's disease-like type 2.

Genes, Dominant↗
PubMed1992

Inherited cancer genes.

The identification of several genes associated with inherited cancer syndromes has opened a door to understanding mechanisms of carcinogenesis in common, non-inherited forms of cancer. Each of these genes appears to play a role in the control of cell growth and differentiation.

Humans↗
PubMed2003

Neurons from radial glia: the consequences of asymmetric inheritance.

Recent work suggests that radial glial cells represent many, if not most, of the neuronal progenitors in the developing cortex. Asymmetric cell division of radial glia results in the self-renewal of the radial glial cell and the birth of a neuron. Among the proteins that direct cell fate in Drosophila melanogaster that have known mammalian homologs, Numb is the best candidate to have a similar function in radial glia. During asymmetric divisions of radial glial cells, the basal cell may inherit the radial glial fibre, while the apical cell sequesters the majority of the Numb protein. We suggest two models that make opposite predictions as to whether the radial glia or nascent neuron inherit the radial glial fiber or the majority of the Numb protein.

Animals↗
PubMed2001

The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.

The 17p11.2 duplication and Connexin 32 (Cx32) mutations are the most frequent gene mutations responsible for Charcot-Marie-Tooth diseases. We classified 282 Charcot-Marie-Tooth families according to the median motor nerve conduction velocity of the index patient and the mode of inheritance, and screened them for 17p11.2 duplication and Cx32 mutations. Forty-seven percent of the Charcot-Marie-Tooth families had median motor nerve conduction velocity under 30 m/s (group 1), 15% between 30 and 40 m/s (group 2), and 28% over 40 m/s (group 3). Spinal Charcot-Marie-Tooth (group 4) was observed in 7% of the families. Modes of inheritance were not similarly represented among the different groups. The 17p11.2 duplication was detected in index patients of group 1 only, and accounted for 83% of the familial cases and 36% of the isolated cases. In contrast, 21 Cx32 mutations were detected to variable degrees in groups 1-3, but were most numerous by far in dominant families of group 2 (44%). This systematic approach was taken to estimate the frequency of 17p11.2 duplication and Cx32 mutations in the different Charcot-Marie-Tooth subgroups, in order to propose a practical strategy for molecular analysis.

Adult↗