Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function

Mitochondrial disorders (MDs) are caused by defects in 1 or multiple complexes of the oxidative phosphorylation (OXPHOS) machinery. MDs are associated with a broad range of clinical signs and symptoms, and have considerable clinical overlap with other neuromuscular syndromes. This overlap might be d...

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Bibliographic Details
Published in:	Clinical genetics Vol. 93; no. 5; pp. 943 - 951
Main Authors:	Panneman, D.M., Smeitink, J.A., Rodenburg, R.J.
Format:	Journal Article
Language:	English
Published:	Oxford, UK Blackwell Publishing Ltd 01-05-2018
Subjects:	Dravet syndrome Mitochondria mitochondrial disorders Mitochondrial DNA Oxidative phosphorylation Phosphorylation Rett syndrome whole‐exome sequencing mitochondrial disorders whole-exome sequencing Dravet syndrome Rett syndrome
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Summary:	Mitochondrial disorders (MDs) are caused by defects in 1 or multiple complexes of the oxidative phosphorylation (OXPHOS) machinery. MDs are associated with a broad range of clinical signs and symptoms, and have considerable clinical overlap with other neuromuscular syndromes. This overlap might be due to involvement of mitochondrial pathways in some of these non‐mitochondrial syndromes. Here, we give an overview of around 25 non‐mitochondrial syndromes, diagnosed in patients who were initially suspected to have a MD on the basis of clinical and biochemical parameters. In addition, we highlight the mitochondrial connections of 6 of these non‐mitochondrial syndromes (eg, Rett syndrome and Dravet syndrome) diagnosed in multiple patients. Further research to unravel the interplay between these genes and mitochondria may help to increase knowledge on these syndromes. Additionally, it may open new avenues for research on pathways interacting with mitochondrial function in order to find new targets for therapeutics to treat MDs. The data presented in this review underline the importance of careful assessment of clinical, genetic, and biochemical data in all patients suspected of a neuromuscular syndrome, and highlights the importance of the role of clinical geneticists, physicians, and clinical biochemists in recognizing the possible mitochondrial connection of non‐mitochondrial syndromes.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1
ISSN:	0009-9163 1399-0004
DOI:	10.1111/cge.13094