Mutations: mitochondrial

Cybrid Harboring mtDNA Mutation Mitochondrial Defect Ref. 

Murdock D.G., Christacos N.C., Wallace D.C. The age-related accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method. Nudeic Acids Res. 2000 28 4350-4355. 

Mutations (eg, point mutations, or in some cases deletions) in the genes (nuclear or mitochondrial) encoding various proteins, enzymes, or tRNA molecules are the fundamental causes of the inherited cardiomyopathies. Some conditions are mild, whereas others are severe and may be part of a syndrome affecting other tissues. 

Grossman LI (1995) Mitochondrial mutations and human disease. Env Mol Mutag 25 30-37. 

Ievin BC, Cheng H and Reeder DJ (1999) A human mitochondrial DNA standard reference material for quality control in forensic identification, medical diagnosis, and mutation detection. Genomics 55 135-146. 

TABLE 42-1 Clinical features of mitochondrial diseases associated with mtDNA mutations... 

Defects of nuclear DNA also cause mitochondrial diseases. As mentioned above, the vast majority of mitochondrial proteins are encoded by nDNA, synthesized in the cytoplasm and imported into the mitochondria through a complex series of steps. Diseases can be due to mutations in genes encoding respiratory chain subunits, ancillary proteins controlling the proper assembly of the respiratory chain complexes, proteins controlling the importation machinery, or proteins controlling the lipid composition of the inner membrane. All these disorders will be transmitted by mendelian inheritance. From a biochemical point of view, all areas of mitochondrial metabolism can be affected (see below). 

Bourgeron, T., Rustin, Chretien, D. etal. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency Nat. Genet. 11 44—149, 1995. 

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