意大利血统的CHCHD10 ALS患者的基因突变(P2.052)

文摘

目标。评估CHCHD10基因突变的频率在一个大的歧视和sALS意大利病人。背景。错义突变CHCHD10基因的最近报道与家族性肌萎缩性侧索硬化症和额颞叶痴呆的大家庭西班牙血统(Bannwarth等,2014)。没有数据在意大利ALS患者迄今已报告。设计/方法。总共64个无关的歧视病人和224个显然sALS病人,对C9ORF72不利,SOD1 TADBP和付家突变进行评估。共有165名健康对照组也进行评估。4编码外显子和侧翼CHCHD10 intronic地区被DHPLC放大了PCR和分析(Transgenomic, Inc .,奥马哈市东北,美国)。PCR产品heteroduplex概要文件被测序ABI 3130测序仪(美国生活技术,培育城市,CA)。 Results. A total of three cases (1 fALS and e apparently sALS) (1.0[percnt]) carried a c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of the CHCHD10 gene. This mutation was not detected in the control population. The mutation resulted to be pathogenetic according to in silico analyses. Two other aminoacidic substitutions were also found, both in apparently sporadic patients, i.e. p.Ala92Thr and p.Pro96Thr. Both these substitution are likely to represent benign polymorphisms. Clinically, the cases are classical ALS, without cognitive involvement or cerebellar signs. Discussion. CHCHD10 missense mutations have been found in about 1[percnt] of Italian ALS patients. The same mutation has been recently described 2 apparently sporadic French ALS patients (Chaussenot et al, 2014). CHCDH10 mutations seem to be concentrated in exon 2 and can cause a ALS with a classic phenotype. Study supported. Ministero della Salute (grant RF-2010-2309849), European Community’s Health Seventh Framework Programme (grant agreement 259867), Joint Programme - Neurodegenerative Disease Research (Italian Ministry of Education and University) (Sophia and Strength projects)

披露:没有卡尔沃博士没有披露。barberi博士没有披露。Brunetti博士没有披露。Restagno博士没有披露。莫拉博士没有披露。Sabatelli博士没有披露。Battistini博士没有披露。Conforti博士没有披露。Caponnetto博士没有披露。Mandrioli博士没有披露。 Dr. Mandich has nothing to disclose. Dr. Zollino has nothing to disclose. Dr. Borghero has nothing to disclose. Dr. Murru has nothing to disclose. Dr. Monsurro has nothing to disclose. Dr. Volanti has nothing to disclose. Dr. Simone has received personal compensation for activities with Sanofi-Aventis Pharmaceuticals, Inc., and Biogen Idec. Dr. Logroscino has received personal compensation for activities with Novartis, GlaxoSmithKline, and Boerhinger, and as a member of the Cohorts Project in Biomedicine. Dr. Logroscino has received personal compensation in an editorial capacity for Karger. Dr. Salvi has received research support from the Fondazione Hilarescere. Dr. Riva has nothing to disclose. Dr. Johnson has nothing to disclose. controls" funded by Merck Inc., $1,300,000. Dr. Penco has nothing to disclose. Dr. Lunetta has nothing to disclose.