Mitochondrial complex II deficiency

Common Name(s)

Mitochondrial complex II deficiency

Complex II, also known as succinate dehydrogenase ({EC 1.3.5.1}), is part of the mitochondrial respiratory chain. Deficiency of complex II is characterized by highly variable phenotypic expression.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mitochondrial complex II deficiency" for support, advocacy or research.

MitoAction

MitoAction's mission is to improve the quality of life for everyone affected by mitochondrial disease through support, education, outreach, and advocacy initiatives.

Last Updated: 4 Mar 2013

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United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

Last Updated: 28 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mitochondrial complex II deficiency" for support, advocacy or research.

MitoAction

MitoAction's mission is to improve the quality of life for everyone affected by mitochondrial disease through support, education, outreach, and advocacy initiatives.

http://www.mitoaction.org/

Last Updated: 4 Mar 2013

View Details
United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

http://www.umdf.org

Last Updated: 28 Feb 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mitochondrial complex II deficiency" returned 4 free, full-text research articles on human participants. First 3 results:

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
 

Author(s): Charlotte L Alston, James E Davison, Francesca Meloni, Francois H van der Westhuizen, Langping He, Hue-Tran Hornig-Do, Andrew C Peet, Paul Gissen, Paola Goffrini, Ileana Ferrero, Evangeline Wassmer, Robert McFarland, Robert W Taylor

Journal: J. Med. Genet.. 2012 Sep;49(9):569-77.

 

Isolated complex II deficiency is a rare form of mitochondrial disease, accounting for approximately 2% of all respiratory chain deficiency diagnoses. The succinate dehydrogenase (SDH) genes (SDHA, SDHB, SDHC and SDHD) are autosomally-encoded and transcribe the conjugated heterotetramers ...

Last Updated: 13 Sep 2012

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[Leigh syndrome due to mitochondrial respiratory chain complex II deficiency].
 

Author(s): Yan-Yan Ma, Tong-Fei Wu, Yu-Peng Liu, Qiao Wang, Jin-Qing Song, Jiang-Xi Xiao, Yu-Wu Jiang, Yan-Ling Yang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2011 Jul;13(7):569-72.

 

Mitochondrial respiratory chain complex II deficiency is a rare documented cause of mitochondrial diseases. This study reported a case of Leigh syndrome due to isolated complex II deficiency. A boy presented with progressive weakness, motor regression and dysphagia after fever from ...

Last Updated: 14 Jul 2011

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Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.
 

Author(s): E Mbaya, B Oulès, C Caspersen, R Tacine, H Massinet, M Pennuto, D Chrétien, A Munnich, A Rötig, R Rizzuto, G A Rutter, P Paterlini-Bréchot, M Chami

Journal: Cell Death Differ.. 2010 Dec;17(12):1855-66.

 

Despite advanced knowledge on the genetic basis of oxidative phosphorylation-related diseases, the molecular and/or cellular determinants for tissue-specific dysfunction are not completely understood. Here, we report the cellular events associated with mitochondrial respiratory Complex ...

Last Updated: 15 Nov 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Mitochondrial complex II deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Genetic Disorders; Mitochondrial Diseases; Disorder of Mitochondrial Respiratory Chain Complexes; Deletion and Duplication of Mitochondrial DNA

 

Last Updated: 20 Nov 2014

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