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TNFRSF1A [corrected] R92Q mutation, autoinflammatory symptoms and multiple sclerosis in a cohort from Argentina.

Abstract

Systemic autoinflammatory diseases are genetic disorders characterized by seemingly unprovoked inflammation, without major involvement of the adaptive immune system. Among them it is recognized the TNF receptor associated periodic syndrome (TRAPS) caused by mutations in the TNFRSF1A gene and characterized by symptoms such as recurrent high fevers, rash, abdominal pain, arthralgia and myalgia. Recent studies have recognized the potential role of TNFRSF1A mutations in Multiple Sclerosis (MS). Our aim was to investigate the role of TNFRSF1A R92Q gene mutation in a cohort of 90 Argentinean MS patients, where we determined the frequency of the TNFRSF1A R92Q mutation. We also compared autoinflammatory symptoms, MS clinical characteristics and treatment response and tolerability in R92Q carriers and non-carriers. Also, we used a case-control study design to obtain the genotypes of 78 healthy controls and assess the role of this mutation as a risk factor for MS. We found that five patients (5.5%) carried the R92Q mutation, four reported autoinflammatory symptoms previous to MS onset. We found no differences in MS clinical features, treatment response and tolerability between carriers and non-carriers. R92Q mutation was more frequent in MS patients as compared to controls. This increases the risk to develop MS in about 4.5 times. The TNFRSF1A R92Q mutation is a common finding in Argentinean MS patients. This genetic variant might be a risk factor for MS.

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  • Authors+Show Affiliations

    ,

    Neurogenetics Clinic, Neurology Division, Hospital JM Ramos Mejia, School of Medicine, University of Buenos Aires, Neuroimmunology Unit, 609-1221, Urquiza, Buenos Aires, Argentina. marcelokauffman@marcelokauffman.info

    , ,

    Source

    Molecular biology reports 39:1 2012 Jan pg 117-21

    MeSH

    Argentina
    Case-Control Studies
    Cohort Studies
    Genetic Predisposition to Disease
    Genotype
    Humans
    Inflammation
    Inheritance Patterns
    Models, Genetic
    Multiple Sclerosis
    Mutation, Missense
    Receptors, Tumor Necrosis Factor, Type I
    Risk Factors

    Pub Type(s)

    Journal Article
    Research Support, Non-U.S. Gov't

    Language

    eng

    PubMed ID

    21567205

    Citation

    Kauffman, Marcelo A., et al. "TNFRSF1A [corrected] R92Q Mutation, Autoinflammatory Symptoms and Multiple Sclerosis in a Cohort From Argentina." Molecular Biology Reports, vol. 39, no. 1, 2012, pp. 117-21.
    Kauffman MA, Gonzalez-Morón D, Garcea O, et al. TNFRSF1A [corrected] R92Q mutation, autoinflammatory symptoms and multiple sclerosis in a cohort from Argentina. Mol Biol Rep. 2012;39(1):117-21.
    Kauffman, M. A., Gonzalez-Morón, D., Garcea, O., & Villa, A. M. (2012). TNFRSF1A [corrected] R92Q mutation, autoinflammatory symptoms and multiple sclerosis in a cohort from Argentina. Molecular Biology Reports, 39(1), pp. 117-21. doi:10.1007/s11033-011-0716-3.
    Kauffman MA, et al. TNFRSF1A [corrected] R92Q Mutation, Autoinflammatory Symptoms and Multiple Sclerosis in a Cohort From Argentina. Mol Biol Rep. 2012;39(1):117-21. PubMed PMID: 21567205.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - TNFRSF1A [corrected] R92Q mutation, autoinflammatory symptoms and multiple sclerosis in a cohort from Argentina. AU - Kauffman,Marcelo A, AU - Gonzalez-Morón,Dolores, AU - Garcea,Orlando, AU - Villa,Andrés María, Y1 - 2011/05/13/ PY - 2010/12/23/received PY - 2011/04/23/accepted PY - 2011/5/14/entrez PY - 2011/5/14/pubmed PY - 2012/3/22/medline SP - 117 EP - 21 JF - Molecular biology reports JO - Mol. Biol. Rep. VL - 39 IS - 1 N2 - Systemic autoinflammatory diseases are genetic disorders characterized by seemingly unprovoked inflammation, without major involvement of the adaptive immune system. Among them it is recognized the TNF receptor associated periodic syndrome (TRAPS) caused by mutations in the TNFRSF1A gene and characterized by symptoms such as recurrent high fevers, rash, abdominal pain, arthralgia and myalgia. Recent studies have recognized the potential role of TNFRSF1A mutations in Multiple Sclerosis (MS). Our aim was to investigate the role of TNFRSF1A R92Q gene mutation in a cohort of 90 Argentinean MS patients, where we determined the frequency of the TNFRSF1A R92Q mutation. We also compared autoinflammatory symptoms, MS clinical characteristics and treatment response and tolerability in R92Q carriers and non-carriers. Also, we used a case-control study design to obtain the genotypes of 78 healthy controls and assess the role of this mutation as a risk factor for MS. We found that five patients (5.5%) carried the R92Q mutation, four reported autoinflammatory symptoms previous to MS onset. We found no differences in MS clinical features, treatment response and tolerability between carriers and non-carriers. R92Q mutation was more frequent in MS patients as compared to controls. This increases the risk to develop MS in about 4.5 times. The TNFRSF1A R92Q mutation is a common finding in Argentinean MS patients. This genetic variant might be a risk factor for MS. SN - 1573-4978 UR - https://www.unboundmedicine.com/medline/citation/21567205/TNFRSF1A_[corrected]_R92Q_mutation_autoinflammatory_symptoms_and_multiple_sclerosis_in_a_cohort_from_Argentina_ L2 - https://doi.org/10.1007/s11033-011-0716-3 DB - PRIME DP - Unbound Medicine ER -