Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2068965 | Mitochondrion | 2010 | 7 Pages |
Abstract
The aim of this study was to identify the causative genetic lesion in two apparently unrelated newborns having lethal lactic acidosis, multi-organ failure and congenital malformations including interrupted aortic arch, who exhibited mild methylmalonic aciduria, combined mitochondrial respiratory chain deficiency, and marked muscle mitochondrial DNA depletion. A novel mutation in the SUCLG1 gene was identified. Phenotype severity in Succinate-CoA ligase dysfunction appears to be more correlated to the muscle mtDNA content than to the tissue distribution of the heterodimer subunits. Prominent impairment of mitochondrial respiratory chain may result in deep ravages in developmental tissues leading to multiple organ failure and malformations.
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Authors
Henry Rivera, Begoña Merinero, Mercedes Martinez-Pardo, Ignacio Arroyo, Pedro Ruiz-Sala, Belen Bornstein, Clara Serra-Suhe, Esther Gallardo, Ramon Marti, Maria J. Moran, Cristina Ugalde, Luis A. Perez-Jurado, Antoni L. Andreu, Rafael Garesse,