Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients

Endocrine Regulations

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