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: 11 Apr 2016

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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: 11 Apr 2016

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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Barath Syndrome Journal

Newsletter published twice a year.

Updated 15 Mar 2016

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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 69 free, full-text research articles on human participants. First 3 results:

Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders.
 

Author(s): Karen van Eunen, Catharina M L Volker-Touw, Albert Gerding, Aycha Bleeker, Justina C Wolters, Willemijn J van Rijt, Anne-Claire M F Martines, Klary E Niezen-Koning, Rebecca M Heiner, Hjalmar Permentier, Albert K Groen, Dirk-Jan Reijngoud, Terry G J Derks, Barbara M Bakker

Journal:

 

Defects in genes involved in mitochondrial fatty-acid oxidation (mFAO) reduce the ability of patients to cope with metabolic challenges. mFAO enzymes accept multiple substrates of different chain length, leading to molecular competition among the substrates. Here, we combined computational ...

Last Updated: 31 Dec 1969

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FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders.
 

Author(s): Jenni M Lehtonen, Saara Forsström, Emanuela Bottani, Carlo Viscomi, Olivier R Baris, Helena Isoniemi, Krister Höckerstedt, Pia Österlund, Mikko Hurme, Juulia Jylhävä, Sirpa Leppä, Ritva Markkula, Tiina Heliö, Giuliana Mombelli, Johanna Uusimaa, Reijo Laaksonen, Hannu Laaksovirta, Mari Auranen, Massimo Zeviani, Jan Smeitink, Rudolf J Wiesner, Kazuto Nakada, Pirjo Isohanni, Anu Suomalainen

Journal: Neurology. 2016 Nov;87(22):2290-2299.

 

To validate new mitochondrial myopathy serum biomarkers for diagnostic use.

Last Updated: 31 Dec 1969

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Metabolic flexibility of mitochondrial respiratory chain disorders predicted by computer modelling.
 

Author(s): Łukasz P Zieliński, Anthony C Smith, Alexander G Smith, Alan J Robinson

Journal: Mitochondrion. 2016 Nov;31():45-55.

 

Mitochondrial respiratory chain dysfunction causes a variety of life-threatening diseases affecting about 1 in 4300 adults. These diseases are genetically heterogeneous, but have the same outcome; reduced activity of mitochondrial respiratory chain complexes causing decreased ATP ...

Last Updated: 31 Dec 1969

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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 72 free, full-text review articles on human participants. First 3 results:

The Function of the Mitochondrial Calcium Uniporter in Neurodegenerative Disorders.
 

Author(s): Yajin Liao, Yuan Dong, Jinbo Cheng

Journal:

 

The mitochondrial calcium uniporter (MCU)-a calcium uniporter on the inner membrane of mitochondria-controls the mitochondrial calcium uptake in normal and abnormal situations. Mitochondrial calcium is essential for the production of adenosine triphosphate (ATP); however, excessive ...

Last Updated: 31 Dec 1969

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Antibiotics May Trigger Mitochondrial Dysfunction Inducing Psychiatric Disorders.
 

Author(s): George B Stefano, Joshua Samuel, Richard M Kream

Journal:

 

Clinical usage of several classes of antibiotics is associated with moderate to severe side effects due to the promotion of mitochondrial dysfunction. We contend that this may be due to perturbation of unique evolutionary relationships that link selective biochemical and molecular ...

Last Updated: 31 Dec 1969

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Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.
 

Author(s): Kathryn M Camp, Danuta Krotoski, Melissa A Parisi, Katrina A Gwinn, Bruce H Cohen, Christine S Cox, Gregory M Enns, Marni J Falk, Amy C Goldstein, Rashmi Gopal-Srivastava, Gráinne S Gorman, Stephen P Hersh, Michio Hirano, Freddie Ann Hoffman, Amel Karaa, Erin L MacLeod, Robert McFarland, Charles Mohan, Andrew E Mulberg, Joanne C Odenkirchen, Sumit Parikh, Patricia J Rutherford, Shawne K Suggs-Anderson, W H Wilson Tang, Jerry Vockley, Lynne A Wolfe, Steven Yannicelli, Philip E Yeske, Paul M Coates

Journal: Mol. Genet. Metab.. 2016 11;119(3):187-206.

 

In December 2014, a workshop entitled "Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base" was convened at the NIH with the goals of exploring the use of nutritional interventions in primary mitochondrial disorders (PMD) and identifying knowledge ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Anesthesia in Patients With Mitochondrial Disease
 

Status: Recruiting

Condition Summary: Mitochondrial Diseases

 

Last Updated: 29 Apr 2017

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Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease
 

Status: Recruiting

Condition Summary: Mitochondrial Disease

 

Last Updated: 4 Dec 2017

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An Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)
 

Status: Recruiting

Condition Summary: Primary Mitochondrial Disease

 

Last Updated: 24 Oct 2017

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