Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis,multi-organ failure,and interrupted aortic arch |
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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 Magdalena Ugarte Joaquin Arenas Miguel A. Martin |
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| Affiliation: | 1. Departamento de Bioquímica, Instituto de Investigaciones Biomédicas “Alberto Sols”, Facultad de Medicina, (UAM-CSIC) and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, Spain;3. Servicio de Genética, Hospital 12 de Octubre, Madrid, Spain;4. Nanomaterials and Nanotechnology Research Center (CINN-CSIC), Madrid, Spain;5. Cancer Epigenetics Laboratory, Institute of Oncology of Asturias (IUOPA), HUCA, Universidad de Oviedo, Oviedo, Spain;1. Department of Human Genetics, McGill University, Montreal, Quebec, Canada;2. Baylor Miraca Genetics Laboratories, Houston, TX, United States;3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States |
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| 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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