Mutations in SURF1 are not specifically associated with Leigh syndrome
نویسندگان
چکیده
منابع مشابه
Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.
Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The dentate nuclei and central tegmental tracts were involved in two cases each (all instances), and the...
متن کاملSurf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis.
Biogenesis of mitochondrial cytochrome c oxidase (COX) relies on a large number of assembly factors, among them the transmembrane protein Surf1. The loss of human Surf1 function is associated with Leigh syndrome, a fatal neurodegenerative disorder caused by severe COX deficiency. In the bacterium Paracoccus denitrificans, two homologous proteins, Surf1c and Surf1q, were identified, which we cha...
متن کاملDecreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations.
Mutations in the gene SURF1 prevent synthesis of cytochrome-c oxidase (COX)-specific assembly protein and result in a fatal neurological disorder, Leigh syndrome. Because this severe COX deficiency presents with barely detectable changes of cellular respiratory rates under normoxic conditions, we analyzed the respiratory response to low oxygen in cultured fibroblasts harboring SURF1 mutations w...
متن کاملLight and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease
AIMS Leigh syndrome (LS) is characterised by almost identical brain changes despite considerable causal heterogeneity. SURF1 gene mutations are among the most frequent causes of LS. Although deficiency of cytochrome c oxidase (COX) is a typical feature of the muscle in SURF1-deficient LS, other abnormalities have been rarely described. The aim of the present work is to assess the skeletal muscl...
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Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders, affecting 5-10% of reproductive aged women. High levels of androgen hormone can be accounted as the most important symptoms in PCOS. Androgen is the precursor of steroid biosynthesis in ovary. The transport of cholesterol to the inner mitochondrial membrane through StAR protein is also necessary for andr...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2001
ISSN: 1468-6244
DOI: 10.1136/jmg.38.2.109