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Deletions of the mitochondrial genome
Author(s) -
Harding A. E.,
Hammans S. R.
Publication year - 1992
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799606
Subject(s) - mitochondrial myopathy , mitochondrial dna , genetics , complementation , biology , kearns–sayre syndrome , respiratory chain , heteroplasmy , mitochondrion , mitochondrial respiratory chain , mitochondrial disease , human mitochondrial genetics , human genetics , gene , microbiology and biotechnology , phenotype
Summary Single large deletions of mitochondrial DNA are found in the muscle of about 40% of patients with mitochondrial myopathies, and are detectable in both blood and muscle in Pearson syndrome. In mitochondrial myopathies, there is a close association between the presence of deletions and involvement of extra‐ocular muscles, together with other features of the Kearns‐Sayre syndrome. Deletions appear to arise as fresh mutations in the vast majority of patients and are often flanked by direct repeats up to 13 nucleotides in length. They should affect translation of all mitochondrially encoded components of the respiratory chain, but there is evidence to suggest that intramitochondrial complementation occurs in some cases.