Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
نویسندگان
چکیده
منابع مشابه
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
BACKGROUND Mitochondrial DNA (mtDNA) diseases are rare disorders whose prevalence is estimated around 1 in 5000. Patients are usually tested only for deletions and for common mutations of mtDNA which account for 5-40% of cases, depending on the study. However, the prevalence of rare mtDNA mutations is not known. METHODS We analysed the whole mtDNA in a cohort of 743 patients suspected of mani...
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Mitochondria contain their own DNA (mtDNA), which codes for 13 proteins (all subunits of the respiratory chain complexes), 22 tRNAs and 2 rRNAs. Several mtDNA point mutations as well as deletions have been shown to be causative in well-defined mitochondrial disorders. A mixture of mutated and wild type mtDNA (heteroplasmy) is found in most of these disorders. Inheritance of mtDNA is maternal, a...
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Mitochondrial diseases are a group of disorders due to a mitochondrial respiratory chain deficiency. They may depend on mitochondrial genome (mtDNA-related disorders) as well as on a nuclear genome defect (nDNA-related disorders). mtDNA-related disorders encompass an increasing number of clinical pictures associated with more than 250 different provisional or confirmed pathogenic changes in mtD...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2013
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2013-101604