Premium
A collection of 33 novel human mtDNA homoplasmic variants
Author(s) -
Crimi Marco,
Sciacco Monica,
Galbiati Sara,
Bordoni Andreina,
Malferrari Giulia,
Bo Roberto Del,
Biunno Ida,
Bresolin Nereo,
Comi Giacomo P.
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9079
Subject(s) - mitochondrial dna , biology , mitochondrion , genetics , human mitochondrial genetics , genome , mutation , mitochondrial disease , gene , dna sequencing , oxidative phosphorylation , computational biology , biochemistry
Mitochondria are involved in cellular energy production via oxidative phosphorylation and this function may be damaged by any mutation in mitochondrial DNA (mtDNA). To identify novel mtDNA mutations, we have developed a program to systematically screen the entire mitochondrial genome in a large number of individuals with clinical and/or morphological features of mitochondrial dysfunction, but still no genetic diagnosis. The sequence‐data were obtained with an automated rapid system, which gave us a series of information: in the eleven mitochondrial genomes analyzed we observed the presence of 33 differences from the revised Cambridge Reference Sequence (Andrews et al., 1999), but they were all homoplasmic in the patients' tissues analyzed (skeletal muscle and blood), suggesting that they are unlikely to be primarily pathogenic though they may be co‐responsible in the determination of the disease. This work can therefore help complete the already ample mtDNA polymorphism existent database. © 2002 Wiley‐Liss, Inc.