2026-04-05T10:54:09Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/58322024-12-13T10:19:18Zcom_2072_378071com_2072_378040col_2072_378097

Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder? Garcia Rodríguez, Cecilia Vidal Taboada, José Manuel Syriani Casagrande, Enrique Salvadó Figueras, Maria Morales, Miguel Gamez Carbonell, Josep Esclerosi lateral amiotròfica Superòxid dismutasa DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Amyotrophic Lateral Sclerosis CHEMICALS AND DRUGS::Enzymes and Coenzymes::Enzymes::Oxidoreductases::Superoxide Dismutase::Superoxide Dismutase-1 ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::esclerosis lateral amiotrófica COMPUESTOS QUÍMICOS Y DROGAS::enzimas y coenzimas::enzimas::oxidorreductasas::superóxido dismutasa::superóxido dismutasa-1 A4V; SOD1; Esclerosi lateral amiotròfica A4V; SOD1; Esclerosis lateral amiotrófica A4V; SOD1; Amyotrophic lateral sclerosis Despite the genetic heterogeneity reported in familial amyotrophic lateral sclerosis (ALS) (fALS), Cu/Zn superoxide-dismutase (SOD1) gene mutations are the second most common cause of the disease, accounting for around 20% of all families (ALS1) and isolated sporadic cases (sALS). At least 186 different mutations in the SOD1 gene have been reported to date. The possibility of a single founder and separate founders have been investigated for D90A (p.D91A) and A4V (p.A5V), the most common mutations worldwide. High-throughput single nucleotide polymorphism genotyping studies have suggested two founders for A4V (one for the Amerindian population and another for the European population) although the possibility that the two populations are descended from a single ancient founder cannot be ruled out. We used 15 genetic variants spanning the human chromosome 21 from the SOD1 gene to the SCAF4 gene, comparing them with the population reference panels, to demonstrate that the first A4V Spanish pedigree shared the genetic background reported in the European population. This study has been supported by Instituto de Salud Carlos III (grant numbers PIS-FEDER PI16/01673 and PI19/00593). JG and JV-T are the recipients of grant 2017SGR00939 from Agència de Gestió d’Ajuts Universitaris i de Recerca (AGAUR) of the Generalitat de Catalunya. 2023-11-08T15:24:52Z 2023-11-08T15:24:52Z 2021-04-09T11:01:21Z 2021-04-09T11:01:21Z 2019-11-08 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://hdl.handle.net/11351/5832 Frontiers in Genetics;10 https://www.frontiersin.org/article/10.3389/fgene.2019.01109/full info:eu-repo/grantAgreement/ES/PE2013-2016/PI16%2F01673 info:eu-repo/grantAgreement/ES/PE2017-2020/PI19%2F00593 info:eu-repo/grantAgreement/ES/PERIS2016-2020/2017SGR00939 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess Frontiers Media Scientia