Recent Advances in Mitochondrial Disease

Recent Advances in Mitochondrial Disease Mitochondrial disease is a challenging area of genetics because two distinct genomes can contribute to disease pathogenesis. It is also challenging clinically because of the myriad of different symptoms and, until recently, a lack of a genetic diagnosis in many patients. The last five years has brought remarkable progress in this area. We provide a brief overview of mitochondrial origin, function, and biology, which are key to understanding the genetic basis of mitochondrial disease. However, the primary purpose of this review is to describe the recent advances related to the diagnosis, genetic basis, and prevention of mitochondrial disease, highlighting the newly described disease genes and the evolving methodologies aimed at preventing mitochondrial DNA disease transmission. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annual Review of Genomics and Human Genetics Annual Reviews

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Publisher
Annual Reviews
ISSN
1527-8204
eISSN
1545-293X
D.O.I.
10.1146/annurev-genom-091416-035426
Publisher site
See Article on Publisher Site

Abstract

Mitochondrial disease is a challenging area of genetics because two distinct genomes can contribute to disease pathogenesis. It is also challenging clinically because of the myriad of different symptoms and, until recently, a lack of a genetic diagnosis in many patients. The last five years has brought remarkable progress in this area. We provide a brief overview of mitochondrial origin, function, and biology, which are key to understanding the genetic basis of mitochondrial disease. However, the primary purpose of this review is to describe the recent advances related to the diagnosis, genetic basis, and prevention of mitochondrial disease, highlighting the newly described disease genes and the evolving methodologies aimed at preventing mitochondrial DNA disease transmission.

Journal

Annual Review of Genomics and Human GeneticsAnnual Reviews

Published: Aug 31, 2017

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