Mitochondrial DNA Rearrangements in Health and Disease-A Comprehensive Study

• Type: Another Publication in an International Scientific Journal
• Date: 2014

Authors

Joana Damas (Author) Other; David C Samuels (Author) Other; Joao Carneiro (Author) Other; Antonio Amorim (Author) FCUP; Filipe Pereira (Author) FCUP

Journal

Title: Human Mutation

Vol. 35

Pages: 1-14

ISSN: 1059-7794

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 58 Citations

Scopus - 63 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-008-K0S

DOI: 10.1002/humu.22452

Abstract (EN): Mitochondrial DNA (mtDNA) rearrangements cause a wide variety of highly debilitating and often fatal disorders and have been implicated in aging and age-associated disease. Here, we present a meta-analytical study of mtDNA deletions (n=730) and partial duplications (n=37) using information from more than 300 studies published over the last 30 years. We show that both classes of mtDNA rearrangements are unequally distributed among disorders and their breakpoints have different genomic locations. We also demonstrate that 100% of cases with sporadic mtDNA deletions and 97.3% with duplications have no breakpoints in the 16,071 breakage hotspot site, in contrast with deletions from healthy and aged tissues. Notably, most deletions removing a section of the D-loop are found in tumors. Deleted mtDNA molecules lacking the origin of L-strand replication (O-L) represent only 9.5% of all reported cases, whereas extra origins of replication occur in all duplications. As previously shown for deletions, imperfect stretches of homology are common in duplication breakpoints. Finally, we provide a dedicated Website with detailed information on deleted/duplicated mtDNA regions to facilitate the design of efficient methods for identification and screening of rearranged mitochondrial genomes (available at http://www.portugene.com/mtDNArearrangements.html).

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 14