Mitochondrial disorders

Common Name(s)

Mitochondrial disorders, Mitochondrial genetic disorders, Mitochondrial diseases

Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy). People with these conditions can present at any age with almost any affected body system; however, the brain, muscles, heart, liver, nerves, eyes, ears and kidneys are the organs and tissues most commonly affected. Symptom severity can also vary widely. Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy. Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance, while those caused by mutations in nuclear DNA may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance. Treatment varies based on the specific type of condition and the signs and symptoms present in each person.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mitochondrial disorders" for support, advocacy or research.

Barth Syndrome Foundation

Our mission is saving lives through education, advances in treatment, and finding a cure for Barth syndrome.

Last Updated: 29 May 2015

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Isabella's Aviary Alliance, LLC

Isabella’s Aviary Alliance, LLC actively demonstrates, through Isabella’s passionate and loving care in breeding and raising baby parrots for other special needs children, the possibility for two hearts—bird and child—coming together and connecting in a way which infinitely brightens the lives of both.

Last Updated: 2 Aug 2013

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MitoAction

MitoAction is a nonprofit organization dedicated to improving the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, and clinical research initiatives.

Last Updated: 28 Jul 2015

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Last Updated: 15 Jul 2015

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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 Jul 2015

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How do you compare to others with this condition?

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Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mitochondrial disorders" for support, advocacy or research.

Barth Syndrome Foundation

Our mission is saving lives through education, advances in treatment, and finding a cure for Barth syndrome.

https://www.barthsyndrome.org

Last Updated: 29 May 2015

View Details
Isabella's Aviary Alliance, LLC

Isabella’s Aviary Alliance, LLC actively demonstrates, through Isabella’s passionate and loving care in breeding and raising baby parrots for other special needs children, the possibility for two hearts—bird and child—coming together and connecting in a way which infinitely brightens the lives of both.

http://www.isabellasaviary.com

Last Updated: 2 Aug 2013

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MitoAction

MitoAction is a nonprofit organization dedicated to improving the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, and clinical research initiatives.

http://www.mitoaction.org/

Last Updated: 28 Jul 2015

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 15 Jul 2015

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 Jul 2015

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General Resources

UMDF National Resource Guide

The UMDF Mitochondrial Resource Guide is available Online! It represents many hours of searching for the best information and resources to help you care for yourself and/or your family member affected by a mitochondrial disease.

Updated 29 Oct 2012

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Barth Syndrome Professional Healthcare Brochure

Important information regarding diagnosis and treatment of Barth syndrome.

Updated 12 Apr 2014

Open Doc
2014 Conference Program

2014 Conference Program

Updated 14 Jan 2015

Open Doc
How to Diagnose

How to diagnose Barth syndrome

Updated 14 Jan 2015

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Overview of Barth syndrome

Overview of Barth syndrome

Updated 14 Jan 2015

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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 disorders" returned 55 free, full-text research articles on human participants. First 3 results:

The many roads to mitochondrial dysfunction in neuroimmune and neuropsychiatric disorders.
 

Author(s): Gerwyn Morris, Michael Berk

Journal:

 

Mitochondrial dysfunction and defects in oxidative metabolism are a characteristic feature of many chronic illnesses not currently classified as mitochondrial diseases. Examples of such illnesses include bipolar disorder, multiple sclerosis, Parkinson's disease, schizophrenia, depression, ...

Last Updated: 19 Apr 2015

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Morinda citrifolia plays a central role in the primary prevention of mitochondrial-dependent degenerative disorders.
 

Author(s): Simone Caramel, Marco Marchionni, Sergio Stagnaro

Journal: Asian Pac. J. Cancer Prev.. 2015 ;16(4):1675.

 

Last Updated: 6 Mar 2015

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COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
 

Author(s): Gloria Brea-Calvo, Tobias B Haack, Daniela Karall, Akira Ohtake, Federica Invernizzi, Rosalba Carrozzo, Laura Kremer, Sabrina Dusi, Christine Fauth, Sabine Scholl-Bürgi, Elisabeth Graf, Uwe Ahting, Nicoletta Resta, Nicola Laforgia, Daniela Verrigni, Yasushi Okazaki, Masakazu Kohda, Diego Martinelli, Peter Freisinger, Tim M Strom, Thomas Meitinger, Costanza Lamperti, Atilano Lacson, Placido Navas, Johannes A Mayr, Enrico Bertini, Kei Murayama, Massimo Zeviani, Holger Prokisch, Daniele Ghezzi

Journal: Am. J. Hum. Genet.. 2015 Feb;96(2):309-17.

 

Primary coenzyme Q10 (CoQ10) deficiencies are rare, clinically heterogeneous disorders caused by mutations in several genes encoding proteins involved in CoQ10 biosynthesis. CoQ10 is an essential component of the electron transport chain (ETC), where it shuttles electrons from complex ...

Last Updated: 9 Feb 2015

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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 disorders" returned 58 free, full-text review articles on human participants. First 3 results:

Current experience in testing mitochondrial nutrients in disorders featuring oxidative stress and mitochondrial dysfunction: rational design of chemoprevention trials.
 

Author(s): Giovanni Pagano, Annarita Aiello Talamanca, Giuseppe Castello, Mario D Cordero, Marco d'Ischia, Maria Nicola Gadaleta, Federico V Pallardó, Sandra Petrović, Luca Tiano, Adriana Zatterale

Journal:

 

An extensive number of pathologies are associated with mitochondrial dysfunction (MDF) and oxidative stress (OS). Thus, mitochondrial cofactors termed "mitochondrial nutrients" (MN), such as α-lipoic acid (ALA), Coenzyme Q10 (CoQ10), and l-carnitine (CARN) (or its derivatives) have ...

Last Updated: 8 Nov 2014

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Sleep disorders associated with primary mitochondrial diseases.
 

Author(s): Ryan J Ramezani, Peter W Stacpoole

Journal:

 

Primary mitochondrial diseases are caused by heritable or spontaneous mutations in nuclear DNA or mitochondrial DNA. Such pathological mutations are relatively common in humans and may lead to neurological and neuromuscular complication that could compromise normal sleep behavior. ...

Last Updated: 21 Nov 2014

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Changes in mitochondrial function are pivotal in neurodegenerative and psychiatric disorders: how important is BDNF?
 

Author(s): A Markham, R Bains, P Franklin, M Spedding

Journal: Br. J. Pharmacol.. 2014 Apr;171(8):2206-29.

 

The brain is at the very limit of its energy supply and has evolved specific means of adapting function to energy supply, of which mitochondria form a crucial link. Neurotrophic and inflammatory processes may not only have opposite effects on neuroplasticity, but also involve opposite ...

Last Updated: 11 Apr 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Tissue Sample Study for Mitochondrial Disorders
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Disease; Melas; Kearns Sayer; NARP; MNGIE; LHON; Mitochondrial Depletion Syndrome; Leigh's Disease

 

Last Updated: 5 May 2015

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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: 6 May 2015

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EPI-743 for Metabolism or Mitochondrial Disorders
 

Status: Recruiting

Condition Summary: Undiagnosed Diseases; Metabolic Disease; Neurology; Myoptahy; Oxidation/Reduction; Mitochondrial Disorders

 

Last Updated: 26 Feb 2015

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