Age-related mitochondrial DNA point mutations in patients with mitochondrial myopathy

Age-related mitochondrial DNA point mutations in patients with mitochondrial myopathy

Author Costa, Carina K. da Autor UNIFESP Google Scholar
Kiyomoto, Beatriz H. Autor UNIFESP Google Scholar
Schmidt, Beny Autor UNIFESP Google Scholar
Oliveira, Acary S. B. Autor UNIFESP Google Scholar
Gabbai, Alberto Alain Autor UNIFESP Google Scholar
Tengan, Celia H. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract Mutations in the control region (D-loop) of mitochondrial DNA (mtDNA) have been described in normal old individuals and it is suggested that they originated from oxidative damage. Respiratory chain defects may lead to increased free radical generation, increased susceptibility to oxidative damage and further increased accumulation of age-related mutations. the objective of this study was to verify whether patients with a mitochondrial disease are more predisposed to accumulate the A189G and T408A mutations in the D-loop and confirm their age-associated nature. We evaluated the presence and levels of heteroplasmy of these two mutations in muscle DNA of 52 individuals with different ages (21 age-matched controls and 31 patients with single or multiple mtDNA deletions). the frequency of both mutations was significantly increased with age, but no differences were observed comparing the group of patients with their age-matched controls. We could not observe correlation of levels of heteroplasmy with age. Our results confirm the age-related nature of the A189G and T408A mutations in the D-loop in controls and patients with mitochondrial disease, but do not suggest that patients are more predisposed to the development of age-related point mutations. (c) 2007 Elsevier B.V. All rights reserved.
Keywords mitochondrial DNA
mitochondrial diseases
Language English
Date 2007-12-15
Published in Journal of the Neurological Sciences. Amsterdam: Elsevier B.V., v. 263, n. 1-2, p. 139-144, 2007.
ISSN 0022-510X (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 139-144
Access rights Closed access
Type Article
Web of Science ID WOS:000253671700023

Show full item record


File Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)




My Account