Gene therapy for ethylmalonic encephalopathy

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Ethylmalonic encephalopathy is caused by a deficiency of a mitochondrial sulfur dioxygenase (leading to the accumulation of sulfides in mitochondria, which impair mitochondrial energy metabolism). Ethylmalonic encephalopathy is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea.

Now, using an adeno-associated virus to deliver the ETHE1 gene to the liver of a mouse model, investigators were able to not only correct biomarkers of the disease, but also extend their lifespan from 1 month to over 6 months.

Di Meo I, Auricchio A, Lamperti C, Burlina A, Viscomi C, Zeviani M.
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy.
EMBO Mol Med. 2012 Sep;4(9):1008-14.

See OMMBID Chapter 93: Branched Chain Organic Aciduria

Posted by Philippe Campeau, MD

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