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At least 613 records · Page 34Linked to original sources
PubMed2006

How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?

Knowledge whether a certain DNA variant is a pathogenic mutation or a harmless polymorphism is a critical issue in medical genetics, in which results of a molecular analysis may serve as a basis for diagnosis and genetic counseling. Due to its genetic heterogeneity expressed at the levels of loci, genes and mutations, Charcot-Marie-Tooth (CMT) disease can serve as a model group of clinically homogenous diseases for studying the pathogenicity of mutations. Close to a 17p11.2-p12 duplication occurring in 70% of patients with the demyelinating form of CMT disease, numerous mutations have been identified in poorly characterized genes coding for proteins of an unknown function. Functional analyses, segregation analyses of large pedigrees, and inclusion of large control groups are required to assess the potential pathogenicity of CMT mutations. Hence, the pathogenicity of numerous CMT mutations remains unclear. Some variants detected in the CMT genes and originally described as pathogenic mutations have been shown to have a polymorphic character. In contrast, polymorphisms initially considered harmless were later reclassified as pathogenic mutations. However, the process of assessing the pathogenicity of mutations, as presented in this study for CMT disorders, is a more general issue concerning all disorders with a genetic background. Since the number of DNA variants is still growing, in the near future geneticists will increasingly have to cope with the problem of pathogenicity of identified genetic variants.

Charcot-Marie-Tooth Disease↗
PubMed2003

Periodontal disease, tooth loss, and incidence of ischemic stroke.

BACKGROUND AND PURPOSE: Periodontal and other infections have been suggested as potential risk factors for stroke. This study evaluates periodontal disease and tooth loss as risk factors for ischemic stroke. METHODS: The study population consisted of 41 380 men who were free of cardiovascular disease and diabetes at baseline. Periodontal disease history was assessed by mailed validated questionnaires. During 12 years of follow-up, stroke incidence was assessed and subclassified by use of medical history, medical records, and imaging reports. Hazard ratios (HRs) were adjusted for age, amount smoked, obesity, alcohol, exercise, family history of cardiovascular disease, multivitamin use, vitamin E use, profession, baseline reported hypertension, and hypercholesterolemia. Sex and socioeconomic status were inherently controlled for by restriction. Confounding variables were updated in the analyses for each 2-year follow-up interval. RESULTS: We documented 349 ischemic stroke cases during the follow-up period. Men who had < or =24 teeth at baseline were at a higher risk of stroke compared to men with > or =25 teeth (HR=1.57; 95% CI, 1.24 to 1.98). There was little evidence of an increased risk with recent tooth loss during follow-up. A modest association was seen between baseline periodontal disease history and ischemic stroke (HR=1.33; 95% CI, 1.03 to 1.70). Addition of dietary factors to the model changed the HR only slightly. CONCLUSIONS: Our results suggest that periodontal disease and fewer teeth may be associated with increased risk of ischemic stroke.

Adult↗
PubMed1999

Charcot-Marie-Tooth disease type 1A duplication by PCR analysis.

By generating new junctional fragments from the recombinant Charcot-Marie-Tooth (CMT) 1A-REPs in CMT1A patients, a 3.2-kb recombination hot spot is observed in three quarters of CMT1A patients. By a polymerase chain reaction (PCR) method the authors analyzed eight patients CMT1A duplication, confirmed by Southern blot, to detect a recombination hot spot. Four patients had a novel 3.2-kb junctional fragment by PCR analysis. These four patients with a novel 3.2-kb junctional fragment had an abnormal 1789-bp fragment in addition to 1986-bp fragment after NsiI digestion (type 1). One patient who demonstrated no novel 3.2-kb junctional fragment had an abnormal 336-bp fragment in addition to 265 bp (type 2). Three patients with CMT1A duplication were not diagnosed as having CMT1A on the basis of PCR analysis. The PCR-based DNA test is valuable for screening to detect CMT1A duplication.

Adolescent↗
PubMed1985

Fluorine concentration changes in human periodontally diseased tooth roots following several treatment times with citric acid.

Citric acid conditioning of exposed cementum has become an important adjunct to the clinical management of periodontal disease, and aggressive root planing is recommended to remove hypermineralized and endotoxin-laden diseased cementum. A nuclear resonance reaction technique was used to examine fluorine concentration changes subsequent to application of citric acid (pH 1.0) to the periodontal disease-exposed cementum surfaces of human tooth roots. The technique does not require the test teeth to be sectioned, thereby permitting longitudinal assessments of changes in fluorine concentration and minimizing measurement errors due to the considerable biological variation found between individuals. Initial fluorine concentrations ranged from 0.9%-2.4%, and maxima occurred within 4-6 microns of the surface, suggesting the presence of a hypermineralized layer. Within 60 sec, the citric acid had effectively removed the hypermineralized layer and the previously observed fluctuations in fluorine concentration leveled out at 0.3%-0.5%. Although the results indicated rapid removal of the hypermineralized layer and establishment of fluorine levels normally found in healthy cementum, the experimental design did not permit appraisal of potential effects upon the organic components of periodontally-exposed cementum.

Citrates↗
PubMed1999

The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q.

Neuregulin-2 (NRG2) is a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the ErbB family of receptors, neuregulin-2 induces the growth and differentiation of epithelial, neuronal, glial and other types of cells. In this study, we have cloned the human neuregulin-2 gene, and determined its genomic structure and alternative splicing patterns. By using radiation hybrid mapping panels, the human NRG2 gene was mapped to the D5S658-D5S402 region within 5q23-q33, close to an autosomal recessive form of demyelinating Charcot-Marie-Tooth (CMT) disease. The NRG2 gene was found to be on two yeast artificial chromosomes overlapping the candidate interval and was, thus, considered a good positional candidate for this form of CMT. When the entire neuregulin-2 coding sequence and splice junctions were explored, however, no mutation was identified in one CMT family linked to 5q23-q33. In addition, three intronic single nucleotide polymorphisms were identified in the NRG2 gene. Genotyping in two families localized the NRG2 gene outside of the revised candidate interval between D5S402-D5S210 and excluded NRG2 as the gene responsible for this form of CMT disease.

Adult↗