Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.
نویسندگان
چکیده
We describe four patients from three independent families with the m.1644G>A in the MT-TV gene, previously reported without demonstration of its deleterious impact. Very high mutation proportion co-segregated with cytochrome oxidase defect in single muscle fibers and respiratory defect in cybrids as shown by spectrophotometric assays and polarography. The mutation appeared to have a very steep threshold effect with asymptomatic life up to 70% mutation proportion, progressive encephalopathy above 80% and severe Leigh-like syndrome above 95% mutation. One patient did not fit within that frame but presented with characteristics suggesting the presence of an additional disease.
منابع مشابه
Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies.
The aim of this study was to identify the genetic defect in two patients having cardiac dysfunction accompanied by neurological symptoms, and in one case MRI evidence of cortical and cerebellar atrophy with hyperintensities in the basal ganglia. Muscle biopsies from each patient revealed single and combined mitochondrial respiratory chain deficiency. The complete mtDNA sequencing of both patien...
متن کاملLack of Association of Mitochondrial A3243G tRNALeu Mutation in Iranian Patients with Type 2 Diabetes
Many kinds of mutations in mitochondrial (mt) DNA have been reported to be related to the development of Diabetes Mellitus (DM), this type of diabetes has also been shown to be influenced by other genetic factors and/or environmental factors. Among them, tRNALeu(UUR) and its adjacent mtDNA NADH dehydrogenase subunit 1(ND1) region within the mt genome are linked to high susceptibility to DM. A p...
متن کاملDetection of Ethambutol-Resistant Associated Mutations in Mycobacterium tuberculosis Isolates from Iran Using Multiplex Allele-Specific PCR
Tuberculosis is a serious global public health problem and its high prevalence is stron gly associated with the enhancement of drug resistance. In this study we demonstrate a multiplex allele-specific polymerase chain reaction (MAS)-PCR assay to simultaneously detect mutations in the first and third bases of the embB gene codon 306 ATG in ethambutol (EMB) resistant isolates of Mycobacterium t...
متن کاملGenetic diversity of myostatin and calpastatin genes in Zandi sheep
Myostatin (MSTN) is an inhibitor of skeletal muscle growth, and a mutation in the gene coding region leads to increased muscling. Calpastatin (CAST) is a specific inhibitor of the ubiquitous calcium-dependent proteases, µ-calpain and m-calpain, found in mammalian tissues. In this study, genomic DNA was extracted from Zandi sheep blood samples. Gel monitoring and spectrophotometer methods were u...
متن کاملبررسی فراوانی جهش های DNA میتوکندریایی در دیابت نوع دو
Background: Mitochondria is one of the intracellular organelle with specific DNA. Some diseases caused by mtDNA mutations have been reported up to now. Mutation of A3243G and deletion of 5kb are two of them that related to Diabetes type II. The aim of this study was to evaluate the frequency of A3243G mutation and 5kb mt DNA deletion in type II diabetic patients.Methods: The DNA extracted from...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Mitochondrion
دوره 15 شماره
صفحات -
تاریخ انتشار 2014