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Mitochondrial genetic medicine
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Journal Article
Mitochondrial genetic medicine
2018
Overview
Inherited mitochondrial DNA (mtDNA) diseases were discovered 30 years ago, and their characterization has provided a new perspective on the etiology of the common metabolic and degenerative diseases, cancer, and aging. The maternally inherited mtDNA contains 37 critical bioenergetic genes that are present in hundreds of copies per cell, but the ‘mitochondrial genome’ encompasses an additional 1,000–2,000 nuclear DNA (nDNA) mitochondrial genes. The interaction between these two mitochondrial genetic systems provides explanations for phenomena such as the non-Mendelian transmission of the common ‘complex’ diseases, age-related disease risk and progression, variable penetrance and expressivity, and gene–environment interactions. Thus, mtDNA genetics contributes to the quantitative and environmental components of human genetics that cannot be explained by Mendelian genetics. Because mtDNA is maternally inherited and cytoplasmic, it has fostered the first germline gene therapy, nuclear transplantation. However, effective interventions are still lacking for existing patients with mitochondrial dysfunction.
Mitochondrial variants are important to consider when analyzing the genetics of various metabolic or age-related diseases. These mtDNA variants can influence the penetrance of a phenotype or interact differentially with nuclear DNA variants.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ 631/45
/ 692/699
/ Aging
/ Analysis
/ Animal Genetics and Genomics
/ Animals
/ Biomedical and Life Sciences
/ Cancer
/ DNA
/ DNA, Mitochondrial - genetics
/ Energy
/ Energy Metabolism - genetics
/ Etiology
/ Genes
/ Genetics
/ Genomes
/ Genotype-environment interactions
/ Humans
/ Kinases
/ Mitochondrial Diseases - genetics
/ Mitochondrial Diseases - metabolism
/ Mitochondrial Diseases - therapy
/ Mutation
/ Sepsis
