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: 21 Feb 2018

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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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General Support Organizations

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How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

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: 21 Feb 2018

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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.

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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Professional Healthcare Brochure

Educational brochure for families and clinicans

Updated 21 Feb 2018

Open Doc
2016 Conference Program

Agenda for BSF's 2016 conference

Updated 21 Feb 2018

Open Doc
How to Diagnose Barth Syndrome

How to diagnose Barth syndrome

Updated 21 Feb 2018

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Overview of Barth Syndrome

Overview of Barth syndrome

Updated 21 Feb 2018

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

Eriodictyol 7‑O‑β‑D glucopyranoside from Coreopsis tinctoria Nutt. ameliorates lipid disorders via protecting mitochondrial function and suppressing lipogenesis.
 

Author(s): Yuyan Liang, Hai Niu, Limei Ma, Dan Du, Li Wen, Qing Xia, Wen Huang

Journal: Mol Med Rep. 2017 Aug;16(2):1298-1306.

 

Coreopsis tinctoria (snow chrysanthemum) has been reported to exert antihyperlipidemic effects. The present study aimed to identify the active compounds of Coreopsis tinctoria and to investigate the molecular mechanisms underlying its effects on lipid dysregulation by measuring ...

Last Updated: 31 Dec 1969

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

A Critical Assessment of the Therapeutic Potential of Resveratrol Supplements for Treating Mitochondrial Disorders.
 

Author(s): Boel De Paepe, Rudy Van Coster

Journal:

 

In human cells, mitochondria provide the largest part of cellular energy in the form of adenosine triphosphate generated by the process of oxidative phosphorylation (OXPHOS). Impaired OXPHOS activity leads to a heterogeneous group of inherited diseases for which therapeutic options ...

Last Updated: 31 Dec 1969

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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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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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Mitochondrial-enriched Autologous CD34+ Cells for Non-inherited Mitochondrial Disorders
 

Status: Not yet recruiting

Condition Summary: Mitochondrial Diseases; Pearson Syndrome

 

Last Updated: 24 Dec 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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