Endocrine Regulations | |
Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients | |
Brennerova Katarina1  Kolnikova Miriam2  Ukropec Jozef3  Danis Daniel3  Skopkova Martina3  Gasperikova Daniela3  Kurdiova Timea3  Stanik Juraj3  | |
[1] Department of Paediatrics, Medical Faculty of Comenius University and Children Faculty Hospital, Bratislava, Slovakia;Department of Pediatric Neurology, Medical Faculty of Comenius University and Children Faculty Hospital, Bratislava, Slovakia;Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia; | |
关键词: leigh syndrome; mitochondrial disease; surf1; whole exome sequencing; | |
DOI : 10.2478/enr-2018-0013 | |
来源: DOAJ |
【 摘 要 】
Objectives. Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings. At molecular level, deficiency of respiratory complexes and/or pyruvate dehydrogenase complex is usually observed. Nuclear gene SURF1 encodes an assembly factor for cytochrome c-oxidase complex of the respiratory chain and autosomal recessive mutations in SURF1 are one of the most frequent causes of cytochrome c-oxidase-related Leigh syndrome cases. Here, we aimed to elucidate the genetic basis of Leigh syndrome in three Slovak families.
【 授权许可】
Unknown