Recent Advances in Mitochondrial Disease.
Annu Rev Genomics Hum Genet
; 18: 257-275, 2017 08 31.
Article
em En
| MEDLINE
| ID: mdl-28415858
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.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças Mitocondriais
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Annu Rev Genomics Hum Genet
Assunto da revista:
GENETICA
/
GENETICA MEDICA
Ano de publicação:
2017
Tipo de documento:
Article