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

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...

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Autores principales:	Danis Daniel, Brennerova Katarina, Skopkova Martina, Kurdiova Timea, Ukropec Jozef, Stanik Juraj, Kolnikova Miriam, Gasperikova Daniela
Formato:	article
Lenguaje:	EN
Publicado:	Sciendo 2018
Materias:	leigh syndrome mitochondrial disease surf1 whole exome sequencing Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/c3a5d74663da4074a500d9fb9564ea9d
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spelling	oai:doaj.org-article:c3a5d74663da4074a500d9fb9564ea9d2021-12-02T17:49:32ZMutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients1336-032910.2478/enr-2018-0013https://doaj.org/article/c3a5d74663da4074a500d9fb9564ea9d2018-04-01T00:00:00Zhttps://doi.org/10.2478/enr-2018-0013https://doaj.org/toc/1336-0329Objectives. 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.Danis DanielBrennerova KatarinaSkopkova MartinaKurdiova TimeaUkropec JozefStanik JurajKolnikova MiriamGasperikova DanielaSciendoarticleleigh syndromemitochondrial diseasesurf1whole exome sequencingDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENEndocrine Regulations, Vol 52, Iss 2, Pp 110-118 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	leigh syndrome mitochondrial disease surf1 whole exome sequencing Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	leigh syndrome mitochondrial disease surf1 whole exome sequencing Diseases of the endocrine glands. Clinical endocrinology RC648-665 Danis Daniel Brennerova Katarina Skopkova Martina Kurdiova Timea Ukropec Jozef Stanik Juraj Kolnikova Miriam Gasperikova Daniela Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients
description	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.
format	article
author	Danis Daniel Brennerova Katarina Skopkova Martina Kurdiova Timea Ukropec Jozef Stanik Juraj Kolnikova Miriam Gasperikova Daniela
author_facet	Danis Daniel Brennerova Katarina Skopkova Martina Kurdiova Timea Ukropec Jozef Stanik Juraj Kolnikova Miriam Gasperikova Daniela
author_sort	Danis Daniel
title	Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients
title_short	Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients
title_full	Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients
title_fullStr	Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients
title_full_unstemmed	Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients
title_sort	mutations in surf1 are important genetic causes of leigh syndrome in slovak patients
publisher	Sciendo
publishDate	2018
url	https://doaj.org/article/c3a5d74663da4074a500d9fb9564ea9d
work_keys_str_mv	AT danisdaniel mutationsinsurf1areimportantgeneticcausesofleighsyndromeinslovakpatients AT brennerovakatarina mutationsinsurf1areimportantgeneticcausesofleighsyndromeinslovakpatients AT skopkovamartina mutationsinsurf1areimportantgeneticcausesofleighsyndromeinslovakpatients AT kurdiovatimea mutationsinsurf1areimportantgeneticcausesofleighsyndromeinslovakpatients AT ukropecjozef mutationsinsurf1areimportantgeneticcausesofleighsyndromeinslovakpatients AT stanikjuraj mutationsinsurf1areimportantgeneticcausesofleighsyndromeinslovakpatients AT kolnikovamiriam mutationsinsurf1areimportantgeneticcausesofleighsyndromeinslovakpatients AT gasperikovadaniela mutationsinsurf1areimportantgeneticcausesofleighsyndromeinslovakpatients
_version_	1718379432654143488

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

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