Frequency and Pattern of Heteroplasmy in the Complete Human Mitochondrial Genome

• Type: Article in International Scientific Journal
• Date: 2013

Authors

Amanda Ramos (Author) Other; Cristina Santos (Author) Other; Ligia Mateiu (Author) Other; Maria D del Mar Gonzalez (Author) Other; Luis Alvarez (Author) Other; Luisa Azevedo (Author) FCUP; Antonio Amorim (Author) FCUP; Maria P Pilar Aluja (Author) Other

Journal

Title: PLoS ONE

Vol. 8 No. 1

Final page: e74636

ISSN: 1932-6203

Publisher: Public Library of Science

Indexing

ISI Web of Knowledge - 58 Citations

Scopus - 60 Citations

Scientific classification

FOS: Natural sciences > Biological sciences

CORDIS: Natural sciences > Biological sciences > Biology > Genetics

Other information

Authenticus ID: P-006-6N6

DOI: 10.1371/journal.pone.0074636

Abstract (EN): Determining the levels of human mitochondrial heteroplasmy is of utmost importance in several fields. In spite of this, there are currently few published works that have focused on this issue. In order to increase the knowledge of mitochondrial DNA (mtDNA) heteroplasmy, the main goal of this work is to investigate the frequency and the mutational spectrum of heteroplasmy in the human mtDNA genome. To address this, a set of nine primer pairs designed to avoid co-amplification of nuclear DNA (nDNA) sequences of mitochondrial origin (NUMTs) was used to amplify the mitochondrial genome in 101 individuals. The analysed individuals represent a collection with a balanced representation of genders and mtDNA haplogroup distribution, similar to that of a Western European population. The results show that the frequency of heteroplasmic individuals exceeds 61%. The frequency of point heteroplasmy is 28.7%, with a widespread distribution across the entire mtDNA. In addition, an excess of transitions in heteroplasmy were detected, suggesting that genetic drift and/or selection may be acting to reduce its frequency at population level. In fact, heteroplasmy at highly stable positions might have a greater impact on the viability of mitochondria, suggesting that purifying selection must be operating to prevent their fixation within individuals. This study analyses the frequency of heteroplasmy in a healthy population, carrying out an evolutionary analysis of the detected changes and providing a new perspective with important consequences in medical, evolutionary and forensic fields.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 10