Mitochondrial DNA mutations and pathogenicity.
نویسندگان
چکیده
منابع مشابه
Mitochondrial DNA Mutations, Pathogenicity and Inheritance
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...
متن کاملMitochondrial DNA analysis: polymorphisms and pathogenicity.
The investigation of mtDNA disease can be relatively straightforward if a person has a recognisable phenotype and if it is possible to identify a known pathogenic mtDNA mutation. The difficulties arise when no known mtDNA defect can be found, or when the clinical abnormalities are complex and not easily matched to those of the more common mitochondrial disorders. We will describe here the diffi...
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Mitochondrial defects have been associated with severe neurodegenerative disorders [2], and, more recently, with primary hereditary neoplasias. Germline heterozygote mutations in the nucleus-encoded mitochondrial succinate dehydrogenase (SDH) subunits—a tricarboxylic acid cycle (TCA) enzyme, which is also part of the respiratory chain—cause inherited pheochromocytomas and paragangliomas. Mutati...
متن کاملThe pathogenicity scoring system for mitochondrial tRNA mutations revisited
Confirming the pathogenicity of mitochondrial tRNA point mutations is one of the classical challenges in the field of mitochondrial medicine. In addition to genetic and functional studies, the evaluation of a genetic change using a pathogenicity scoring system is extremely useful to discriminate between disease-causing mutations from neutral polymorphisms. The pathogenicity scoring system is ve...
متن کاملReview article Mitochondrial DNA analysis: polymorphisms and pathogenicity
The investigation of mtDNA disease can be relatively straightforward if a person has a recognisable phenotype and if it is possible to identify a known pathogenic mtDNA mutation. The diYculties arise when no known mtDNA defect can be found, or when the clinical abnormalities are complex and not easily matched to those of the more common mitochondrial disorders. We will describe here the diYcult...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1998
ISSN: 1468-6244
DOI: 10.1136/jmg.35.8.701-a