Resumo

ALMAGUER MEDEROS, Luis Enrique et al. Modifying genes in poliglutaminic diseases. Rev haban cienc méd [online]. 2008, vol.7, n.1, pp. 0-0. ISSN 1729-519X.

Poliglutaminic diseases are an increasing group of human neurodegenerative diseases caused by the expansion of repetitive sequences of CAG which give way to expanded poliglutaminic domains proteins. Ages of onset are a phenotypic marker for these diseases and show a great variation in the affected families. The number of CAG content repetitions in the causal genes, explains a 47 to 80 % of the variability of the age of onset. To explain the remaining variability, the hypothesis of modifying genes has been proposed. We have performed an updated revision of the the subject approaching the more utilized techniques to its identification, the principal findings and its implications. The identification of these genes contribute to clarify the involved pathological mechanisms in these diseases and might conduct to the proposition of potential therapeutic strategies.

Palavras-chave : Apoptosis; Poliglutaminic diseases; excitotoxicity; modifying genes; Ubiquitine carboxiterminal Hydrolase; methylentetrahydrofolate reductase.

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