Andreia Bettencourt *

Autora invitada por SIIC

O trabalho contribui para clarificar o papel dos polimorfismos HFE na Esclerose Múltipla

POLIMORFISMOS DO GENE HFE EM DOENTES COM ESCLEROSE MÚLTIPLA

Sugere-se que o polimorfismo C282Y, do gene HFE, possa estar implicado na agressividade à Esclerose Múltipla, sendo um marcador de mau prognóstico.

*Andreia Bettencourt
describe para SIIC los aspectos relevantes de su trabajo
HFE GENE POLYMORPHISMS AND SEVERITY IN PORTUGUESE PATIENTS WITH MULTIPLE SCLEROSIS
Institución principal de la investigación
*Instituto de Ciências Biomédicas Abel Salazar, Porto, Portugal
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Referencias bibliográficas
1.Silva AM, Bettencourt A, Pereira C, Santos E, Carvalho C, Mendonca D, et al. Protective role of the HLA-A*02 allele in Portuguese patients with multiple sclerosis. Mult Scler 2009,15:771-774. 2.LeVine SM. Iron deposits in multiple sclerosis and Alzheimer's disease brains. Brain Res 1997,760:298-303. 3.Minagar A, Toledo EG, Alexander JS, Kelley RE. Pathogenesis of brain and spinal cord atrophy in multiple sclerosis. J Neuroimaging 2004,14:5S-10S. 4.Kotze MJ, de Villiers JN, Warnich L, Schmidt S, Carr J, Mansvelt E, et al. Lack of clinical manifestation of hereditary haemochromatosis in South African patients with multiple sclerosis. Metab Brain Dis 2006. 5.Ristic S, Lovrecic L, Brajenovic-Milic B, Starcevic-Cizmarevic N, Jazbec SS, Sepcic J, et al. Mutations in the hemochromatosis gene (HFE) and multiple sclerosis. Neurosci Lett 2005,383:301-304. 6.Rubio JP, Bahlo M, Tubridy N, Stankovich J, Burfoot R, Butzkueven H, et al. Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis. Hum Genet 2004,114:573-580. 7.Zamboni P, Galeotti R, Menegatti E, Malagoni AM, Tacconi G, Dall'Ara S, et al. Chronic cerebrospinal venous insufficiency in patients with multiple sclerosis. J Neurol Neurosurg Psychiatry 2009,80:392-399. 8.Zamboni P. The big idea: iron-dependent inflammation in venous disease and proposed parallels in multiple sclerosis. J R Soc Med 2006,99:589-593. 9.Bergan JJ, Schmid-Schonbein GW, Smith PD, Nicolaides AN, Boisseau MR, Eklof B. Chronic venous disease. N Engl J Med 2006,355:488-498. 10.McDonnell GV, Mawhinney H, Graham CA, Hawkins SA, Middleton D. A study of the HLA-DR region in clinical subgroups of multiple sclerosis and its influence on prognosis. J Neurol Sci 1999,165:77-83. 11.Silva AM, Pereira C, Bettencourt A, Carvalho C, Couto AR, Leite MI, et al. The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population. J Neurol Sci 2007,258:69-74. 12.Ramagopalan SV, Cukjati M, Cernilec M, DeLuca GC, Dyment DA, Degenhardt A, et al. Mutations in the hemochromatosis gene and the clinical outcome of multiple sclerosis. J Neuroimmunol 2008,203:104-107. 13.Simka M, Rybak Z. Hypothetical molecular mechanisms by which local iron overload facilitates the development of venous leg ulcers and multiple sclerosis lesions. Med Hypotheses 2008,71:293-297.

Otros artículos de Andreia Bettencourt

1. Duarte R, Carvalho C, Pereira C, Bettencourt A, Carvalho A, Villar M, Domingos A, Barros H, Marques J, Pinho Costa P, Mendonça D, Martins B. “HLA class II alleles as markers of tuberculosis susceptibility and resistance.” Rev Port Pneumol. 2011;17(1):15-19.
2. A Bettencourt, AM Silva, E Santos, S Gomes, D Mendonça, PP Costa, P Faustino and BM Silva. “HFE gene polymorphisms and severity in Portuguese patients with multiple sclerosis” Eur J Neurol. 2011 Apr;18(4):663-6.
3. C Vasconcelos, C Carvalho, B Leal, C Pereira, A Bettencourt, PP Costa, A Marinho, P Barbosa, I Almeida, F Farinha, T Mendonça, JA Correia, D Mendonça, B Martins. “HLA in Portuguese Systemic Lúpus Erythematosus Patients and Their Relation to Clinical Features.” Annals of the New York Academy of Sciences. 2009 Sept;1173:575-580.
4. S Cavaco, AM Silva, P Pinto, E Coutinho, E Santos, A Bettencourt, C Pinto, A Gonçalves, S Silva, F Gomes, L Carvalho, C Pereira, B Martins, J Correia and C Vasconcelos. “Cognitive Functioning in Behçet’s Disease” Annals of the New York Academy of Sciences. 2009 Sept;1173:217-226.
5. AM Silva, A Bettencourt, C Pereira, E Santos, C Carvalho, D Mendonça, PP Costa, L Monteiro, B Martins. “Protective role of the HLA–A*02 allele in Portuguese patients with multiple sclerosis.” Multiple Sclerosis. 2009 Jun;15(6):771-774.
6. A. Bettencourt, C. Pereira, L. Carvalho, C. Carvalho, J. V. Patto, M. Bastos, A. Martins da Silva, R. Barros, C. Vasconcelos, P. Paiva, L. Costa, P. P. Costa, D. Mendonça, J. Correia, B. M. Silva. “New Insights of HLA Class I Association to Behçet Disease in Portuguese Patients”. Tissue Antigens. 2008 Jul 4; 72:379-382.
7. Silva AM, Pereira C, Bettencourt A, Carvalho C, Couto AR, Leite MI, Marta M, Freijo M, Costa PP, Mendonça D, Monteiro L, Armas JB, Martins B. “The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population.” Journal of the Neurological Sciences. 2007 Jul 15; 258(1-2):69-74.

Para comunicarse con Andreia Bettencourt mencionar a SIIC como referencia:
ambettencourt@icbas.up.pt

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Acerca del trabajo completo

POLIMORFISMOS DO GENE HFE EM DOENTES COM ESCLEROSE MÚLTIPLA

Título original en castellano
POLIMORFISMOS DO GENE HFE E SEVERIDADE EM DOENTES PORTUGUESES COM ESCLEROSE MULTIPLA

Autor
Andreia Bettencourt¹, Ana Martins Silva², Ernestina Santos³, Susana Gomes⁴, Denisa Mendonça⁵, Paulo Pinho Costa⁶, Paula Faustino⁷, Berta Martins Silva⁸
1 Investigador, Instituto de Ciências Biomédicas Abel Salazar, Porto, Portugal, Bolseira de Investigação
2 Médica, Centro Hospitalar Do Porto – Hospital de Santo António, Porto, Portugal.
3 Médica, Centro Hospitalar Do Porto – Hospital de Santo António, Porto, Portugal.
4, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal.
5, Instituto de Saúde Pública – Universidade Do Porto, Porto, Portugal.
6, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, Portugal.
7, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal.
8, Umib – Instituto de Ciências Biomédicas Abel Salazar (icbas-uporto), Porto, Portugal.

Acceso a la fuente original
European Journal of Neurology
http://www.wiley.com/bw/journal.asp?ref=1351-5101

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