Article
Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients.
Neuromolecular medicine - 1 Mar 2017
Raposo Mafalda, Bettencourt Conceição, Ramos Amanda, Kazachkova Nadiya, Vasconcelos João, Kay Teresa, Bruges-Armas Jácome, Lima Manuela
Abstract excerpt
Age at onset in spinocerebellar ataxia type 3 (SCA3/MJD) is incompletely explained by the size of the CAG tract at the ATXN3 gene, implying the existence of genetic modifiers. A role of inflammation in SCA3 has been postulated, involving altered cytokines levels; promoter variants leading to alterations in cytokines expression could influence onset. Using blood from 86 SCA3 patients and 106 controls, this work...
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