SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey
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 کامل[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].
OBJECTIVES To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). PATIENTS AND METHODS Clinical data from patients submitted for genetic analysis were collected. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused o...
متن کاملLeigh syndrome: MRI findings in two children
Leigh syndrome is a progressive neurodegenerative disorder of childhood. The symmetrical necrotic lesions in the basal ganglia and/or brainstem which appear as hyperintense lesions on T2-weighted MRI is characteristic and one of the essential diagnostic criteria. Recognising this MR imaging pattern in a child with neurological problems should prompt the clinician to investigate for Leigh syndro...
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 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...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2020
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2020.100657