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?

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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 Support Organizations

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

Mitochondrial Respiration in Intact Peripheral Blood Mononuclear Cells and Sirtuin 3 Activity in Patients with Movement Disorders.
 

Author(s): Slawomir Michalak, Jolanta Florczak-Wyspiańska, Joanna Rybacka-Mossakowska, Wojciech Ambrosius, Krystyna Osztynowicz, Aleksandra Baszczuk, Wojciech Kozubski, Ewa Wysocka

Journal: Oxid Med Cell Longev. 2017 ;2017():9703574.

 

Mitochondrial dysfunction is considered a unifying pathophysiological explanation for movement disorders. Sirtuin 3 (SIRT3) exhibits deacetylase activity and antioxidant properties. The aim of the study was to analyze the mitochondrial respiration in peripheral blood mononuclear cells ...

Last Updated: 31 Dec 1969

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Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders.
 

Author(s): Dimitra Chalkia, Larry N Singh, Jeremy Leipzig, Maria Lvova, Olga Derbeneva, Anita Lakatos, Dexter Hadley, Hakon Hakonarson, Douglas C Wallace

Journal: JAMA Psychiatry. 2017 Nov;74(11):1161-1168.

 

Autism spectrum disorders (ASD) are characterized by impairments in social interaction, communication, and repetitive or restrictive behavior. Although multiple physiologic and biochemical studies have reported defects in mitochondrial oxidative phosphorylation in patients with ASD, ...

Last Updated: 31 Dec 1969

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

Involvement of Mitochondrial Disorders in Septic Cardiomyopathy.
 

Author(s): Arthur Durand, Thibault Duburcq, Thibault Dekeyser, Remi Neviere, Michael Howsam, Raphael Favory, Sebastien Preau

Journal: Oxid Med Cell Longev. 2017 ;2017():4076348.

 

Sepsis is defined as a life-threatening organ dysfunction caused by a dysregulated host response to infection. It remains a leading cause of death worldwide, despite the development of various therapeutic strategies. Cardiac dysfunction, also referred to as septic cardiomyopathy, ...

Last Updated: 31 Dec 1969

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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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Inherited eye-related disorders due to mitochondrial dysfunction.
 

Author(s): Patrick Yu-Wai-Man, Nancy J Newman

Journal: Hum. Mol. Genet.. 2017 08;26(R1):R12-R20.

 

Genetic disorders due to mitochondrial dysfunction are not uncommon and the majority of these patients will have eye-related manifestations, including visual loss from the optic nerve and retinal disease, visual field loss from retrochiasmal visual pathway damage, and ptosis and ocular ...

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: 8 Aug 2018

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