Modulation at Age of Onset in Tunisian Huntington Disease Patients: Implication of New Modifier Genes

Autor:	Saoussen Trabelsi, Imed Harrabi, Sihem Sassi, Dorra H'mida-Ben Brahim, Moez Gribaa, Sana Ben Amor, Marwa Haddaji-Mastouri, Fatma Ezzahra Gahbiche, Ali Saad, Marwa Chourabi, Soumaya Mougou-Zereli, Sofiane Ben Ammou, Turkia Lamouchi
Rok vydání:	2014
Předmět:	Genetics Cag expansion Mutation education.field_of_study Article Subject lcsh:QH426-470 business.industry Population Disease medicine.disease_cause lcsh:Genetics Exon Medicine Age of onset business education Molecular Biology Gene Genetics (clinical) Research Article Modifier Genes
Zdroj:	Genetics Research International, Vol 2014 (2014) Genetics Research International
ISSN:	2090-3162 2090-3154
Popis:	Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder. The causative mutation is an expansion of more than 36 CAG repeats in the first exon of IT15 gene. Many studies have shown that the IT15 interacts with several modifier genes to regulate the age at onset (AO) of HD. Our study aims to investigate the implication of CAG expansion and 9 modifiers in the age at onset variance of 15 HD Tunisian patients and to establish the correlation between these modifiers genes and the AO of this disease. Despite the small number of studied patients, this report consists of the first North African study in Huntington disease patients. Our results approve a specific effect of modifiers genes in each population.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d2160449a6b1a772a85da985c186e55 https://doi.org/10.1155/2014/210418 Zobrazit plný text záznamu Plný text ve formátu PDF