Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools

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We present a new program that provides a general solution for the analysis of variation of mtDNA (the small circular genome in mitochondria, separate from the DNA in the nucleus). This is needed because many large-scale genetic studies are using new DNA sequencing technologies to help assess genetic variation and its effects on disease, but the mitochondrial genome is often ignored because it exists in many copies in a cell, complicating analyses. Our approach both identifies variants on mitochondrial genome and estimates mtDNA copy number. Applying the programs to DNA sequence from ~2,000 SardiNIA project participants, we show that heteroplasmies (mtDNA variants with more than one allele at a DNA site) increase with age, and that copy number is relatively highly heritable and is correlated with metabolic traits, particularly central fat levels. The program package can facilitate comprehensive mtDNA analysis from any whole-genome sequencing data, with an increase in the understanding of mtDNA dynamics and its potential role in aging and metabolism.

Vyšlo v časopise: Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools. PLoS Genet 11(7): e32767. doi:10.1371/journal.pgen.1005306
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005306

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