Deficiency of mitochondrial ATP synthase of nuclear genetic origin
| Autor: | Hana Hansikova, Wolfgang Muss, Houst'ková H, Josef Houštěk, Andrea Pícková, Johannes Koch, R. Vancoster, Joél Smet, Z. Krejčík, Jiri Zeman, L. DeMeirleir, Wolfgang Sperl, Elisabeth Holme, Johannes A. Mayr, Pavel Ješina |
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| Rok vydání: | 2006 |
| Předmět: |
Male
Microcephaly medicine.medical_specialty Mitochondrial DNA Oligomycin Mitochondrial Diseases Adolescent Neonatal onset Mitochondrion chemistry.chemical_compound Adenosine Triphosphate Mitochondrial Encephalomyopathies Internal medicine medicine Cardiomyopathy Hypertrophic Familial Humans Genetic Predisposition to Disease Lactic Acid Age of Onset Child Genetics (clinical) Cell Nucleus ATP synthase biology Infant Newborn Infant Syndrome Mitochondrial Proton-Translocating ATPases medicine.disease Hypotonia Mitochondria Endocrinology Neurology chemistry Biochemistry Lactic acidosis Child Preschool Face Pediatrics Perinatology and Child Health biology.protein Female Neurology (clinical) medicine.symptom Hepatomegaly |
| Zdroj: | BASE-Bielefeld Academic Search Engine |
| ISSN: | 0960-8966 |
| Popis: | We present clinical and laboratory data from 14 cases with an isolated deficiency of the mitochondrial ATP synthase (7-30% of control) caused by nuclear genetic defects. A quantitative decrease of the ATP synthase complex was documented by Blue-Native electrophoresis and Western blotting and was supported by the diminished activity of oligomycin/aurovertin-sensitive ATP hydrolysis in fibroblasts (10 cases), muscle (6 of 7 cases), and liver (one case). All patients had neonatal onset and elevated plasma lactate levels. In 12 patients investigated 3-methyl-glutaconic aciduria was detected. Seven patients died, mostly within the first weeks of life and surviving patients showed psychomotor and various degrees of mental retardation. Eleven patients had hypertrophic cardiomyopathy; other clinical signs included hypotonia, hepatomegaly, facial dysmorphism and microcephaly. This phenotype markedly differs from the severe central nervous system changes of ATP synthase disorders caused by mitochondrial DNA mutations of the ATP6 gene presenting mostly as NARP and MILS. |
| Databáze: | OpenAIRE |
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