No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F18%3A43916859" target="_blank" >RIV/00216208:11120/18:43916859 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064190:_____/18:N0000015

Výsledek na webu

<a href="https://doi.org/10.1016/j.neurobiolaging.2018.05.005" target="_blank" >https://doi.org/10.1016/j.neurobiolaging.2018.05.005</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.neurobiolaging.2018.05.005" target="_blank" >10.1016/j.neurobiolaging.2018.05.005</a>

Jazyk výsledku

angličtina

Název v původním jazyce

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

Popis výsledku v původním jazyce

We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. Exonic resequencing of TIA1 in 1120 patients (693 FTD, 341 ALS, 86 FTD-ALS) and 1039 controls identified in total 5 rare heterozygous missense variants, affecting the TIA1 low-complexity domain (LCD). Only 1 missense variant, p.Met290Thr, identified in a familial FTD patient with disease onset at 64 years, was absent from controls yet received a combined annotation-dependent depletion score of 11.42. By contrast, 3 of the 4 variants also detected in unaffected controls, p.Val294Glu, p.Gln318Arg, and p.Ala381Thr, had combined annotation-dependent depletion scores greater than 20. Our findings in a large European patient-control series indicate that variants in TIA1 are not a common cause of ALS and FTD. The observation of recurring TIA1 missense variants in unaffected individuals lead us to conclude that the exact genetic contribution of TIA1 to ALS and FTD pathogenesis remains to be further elucidated.

Název v anglickém jazyce

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

Popis výsledku anglicky

We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. Exonic resequencing of TIA1 in 1120 patients (693 FTD, 341 ALS, 86 FTD-ALS) and 1039 controls identified in total 5 rare heterozygous missense variants, affecting the TIA1 low-complexity domain (LCD). Only 1 missense variant, p.Met290Thr, identified in a familial FTD patient with disease onset at 64 years, was absent from controls yet received a combined annotation-dependent depletion score of 11.42. By contrast, 3 of the 4 variants also detected in unaffected controls, p.Val294Glu, p.Gln318Arg, and p.Ala381Thr, had combined annotation-dependent depletion scores greater than 20. Our findings in a large European patient-control series indicate that variants in TIA1 are not a common cause of ALS and FTD. The observation of recurring TIA1 missense variants in unaffected individuals lead us to conclude that the exact genetic contribution of TIA1 to ALS and FTD pathogenesis remains to be further elucidated.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30210 - Clinical neurology

Projekt

—

Návaznosti

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Rok uplatnění

2018

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Neurobiology of Aging

ISSN

0197-4580

e-ISSN

—

Svazek periodika

69

Číslo periodika v rámci svazku

September

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

3

Strana od-do

"293.e9"-"293.e11"

Kód UT WoS článku

000439651000034

EID výsledku v databázi Scopus

2-s2.0-85048725744