Referenced in: none

Automatically associated channels: TRP , TRPM , TRPM7

Title: The distinct genetic pattern of ALS in Turkey and novel mutations.

Authors: Aslıhan Özoğuz, Özgün Uyan, Güneş Birdal, Ceren Iskender, Ece Kartal, Suna Lahut, Özgür Ömür, Zeynep Sena Agim, Aslı Gündoğdu Eken, Nesli Ece Sen, Pınar Kavak, Ceren Saygı, Peter C Sapp, Pamela Keagle, Yeşim Parman, Ersin Tan, Filiz Koç, Feza Deymeer, Piraye Oflazer, Haşmet Hanağası, Hakan Gürvit, Başar Bilgiç, Hacer Durmuş, Mustafa Ertaş, Dilcan Kotan, Mehmet Ali Akalın, Halil Güllüoğlu, Mehmet Zarifoğlu, Fikret Aysal, Nilgün Döşoğlu, Kaya Bilguvar, Murat Gunel, Özlem Keskin, Tahsin Akgün, Hilmi Özçelik, John E Landers, Robert H Brown, A Nazlı Başak

Journal, date & volume: Neurobiol. Aging, 2015 Apr , 36, 1764.e9-18

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/25681989

Abstract
The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we screened 477 ALS patients for mutations, including 116 familial ALS patients from 82 families and 361 sporadic ALS (sALS) cases. Patients were genotyped for C9orf72 (18.3%), SOD1 (12.2%), FUS (5%), TARDBP (3.7%), and UBQLN2 (2.4%) gene mutations, which together account for approximately 40% of familial ALS in Turkey. No SOD1 mutations were detected in sALS patients; however, C9orf72 (3.1%) and UBQLN2 (0.6%) explained 3.7% of sALS in the population. Exome sequencing revealed mutations in OPTN, SPG11, DJ1, PLEKHG5, SYNE1, TRPM7, and SQSTM1 genes, many of them novel. The spectrum of mutations reflect both the distinct genetic background and the heterogeneous nature of the Turkish ALS population.