In:
Science Translational Medicine, American Association for the Advancement of Science (AAAS), Vol. 14, No. 676 ( 2022-12-21)
Abstract:
Patients with single large-scale mitochondrial DNA deletion syndromes (SLSMDs) experience multisystemic disease, and no targeted therapies currently exist. Here, Jacoby and colleagues applied mitochondrial augmentation therapy (MAT) to six individuals with SLSMDs as part of a compassionate use program. CD34+ cells were collected from the patients and augmented ex vivo with maternally derived healthy mitochondria, then given back to the patient. MAT resulted in decreased heteroplasmy, increased full-length mitochondrial DNA, and improved ATP content in peripheral blood mononuclear cells and was associated with improved weight in five of six patients and improved muscle strength and endurance in two individuals, suggesting that MAT should be further investigated for the treatment of SLSMDs.--MN
Type of Medium:
Online Resource
ISSN:
1946-6234
,
1946-6242
DOI:
10.1126/scitranslmed.abo3724
Language:
English
Publisher:
American Association for the Advancement of Science (AAAS)
Publication Date:
2022
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