Maternally inherited Leigh syndrome

Common Name(s)

Maternally inherited Leigh syndrome

Maternally inherited Leigh syndrome (MILS) is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. MILS is a subtype of Leigh syndrome and is caused by changes in mitochondrial DNA. Mutations in at least 11 mitochondrial genes have been found to cause MILS. This condition has an inheritance pattern known as maternal or mitochondrial inheritance. Because mitochondria can be passed from one generation to the next only through egg cells (not through sperm cells), only females pass MILS to their children.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Maternally inherited Leigh syndrome" for support, advocacy or research.

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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Maternally inherited Leigh syndrome" for support, advocacy or research.

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

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 "Maternally inherited Leigh syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis.
 

Author(s): Rosalba Carrozzo, Teresa Rizza, Annarita Stringaro, Roberta Pierini, Elisabetta Mormone, Filippo M Santorelli, Walter Malorni, Paola Matarrese

Journal: J. Neurochem.. 2004 Jul;90(2):490-501.

 

The key role of mitochondria in the apoptotic process is well understood, but not many data are available regarding the specific role of mitochondrial DNA mutations in determining cell fate. We investigated whether two mitochondrial DNA mutations (L217R and L156R) associated with ...

Last Updated: 1 Jul 2004

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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 "Maternally inherited Leigh syndrome" 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 Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.