New Genetic Factors in MS: TRAPS and TNFRSF1A Mutation in Argentina

KAUFFMAN MARCELO; GONZALEZ MORON DOLORES; GARCEA O; VILLA ANDRES MARIA

Congreso; Annual Meeting American Academy of Neurology; 2010

Objective: To assess the frequency of TNFRSF1A R92Q mutation in a cohort of MS Argentinean patients and to investigate the role of this mutation in MS clinical charcteristics. Secondarily, to investigate the role of this mutation as a genetic risk factor to develop MS. Background: Recent studies have recognized a role for TNFRSF1A mutations in MS. A number of patients presenting the coexistence of TRAPS (caused by R92Q mutation) and MS were reported . Gene variants in TNFRSF1A migh be a genetic risk factor to develop MS. Design/Methods: We investigated in a cohort of 90 MS patients from Argentina the TNFRSF1A R92Q mutation by means of a PCR-RFLP assay. TRAPS symptoms, MS clinical characteristics and treatment response and tolerability were investigated in carriers and non-carriers. Secondarily, 78 healthy controls were genotyped to assess the role of this mutation as a risk factor following a case-control study design. Results: Five patients (5.5%) carried the R92Q mutation. Four of them reported symptoms suggestive of TRAPS previous to MS onset. No differences in MS clinical features and treatment response and tolerability were found between carriers and non-carriers. R92Q mutation was more frequent in patients than controls increasing the risk to develop MS in about 4.5 times. Conclusions/Relevance: The TNFRSF1A R92Q mutation is not an infrequent finding in MS Argentinean patients that seem to present the coexistence of TRAPS and the demyelinating disease. This genetic variant might be a risk factor to develop MS.