Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

Inherited disorders of oxidative phosphorylation cause the clinically and genetically heterogeneous diseases known as mitochondrial energy generation disorders, or mitochondrial diseases. Over the last three decades, mutations causing these disorders have been identified in almost 290 genes, but man...

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Bibliographic Details
Published in:The Journal of biological chemistry 2019-04, Vol.294 (14), p.5386-5395
Main Authors: Frazier, Ann E., Thorburn, David R., Compton, Alison G.
Format: Article
Language:English
Subjects:
Animals
Energy Metabolism
genetic disease
Genetic Diseases, Inborn - genetics
Genetic Diseases, Inborn - metabolism
Genetic Diseases, Inborn - pathology
genomics
Humans
JBC Reviews
mitochondria
mitochondrial disease
Mitochondrial Diseases - genetics
Mitochondrial Diseases - metabolism
Mitochondrial Diseases - pathology
Mutation
OXPHOS
respiratory chain
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Summary:Inherited disorders of oxidative phosphorylation cause the clinically and genetically heterogeneous diseases known as mitochondrial energy generation disorders, or mitochondrial diseases. Over the last three decades, mutations causing these disorders have been identified in almost 290 genes, but many patients still remain without a molecular diagnosis. Moreover, while our knowledge of the genetic causes is continually expanding, our understanding into how these defects lead to cellular dysfunction and organ pathology is still incomplete. Here, we review recent developments in disease gene discovery, functional characterization, and shared pathogenic parameters influencing disease pathology that offer promising avenues toward the development of effective therapies.
ISSN:0021-9258
1083-351X
DOI:10.1074/jbc.R117.809194