The hidden story behind gender differences in familial amyloid polyneuropathy (FAP) ATTRV30M
نویسندگان
چکیده
Background Familial amyloid polyneuropathy (FAP ATTRV30M) is an autosomal dominant systemic amyloidosis, due to a point mutation in the transthyretin (TTR) gene (chr18q12.1). The most frequent one, V30M is associated with several clusters. Among Portuguese families, FAP shows a wide variation in in age-at-onset (AO) [19-82 yrs] and this variability is also apparent between generations. Also, significant differences in AO regarding gender are known in Portuguese series, where women were found to have a later-onset than men. Moreover, mother-son pairs showed larger anticipation (> 10 yrs) while the father-daughter pairs only showed residual anticipation. Therefore, to unravel these gender-related differences in AO, we studied three candidate-genes (AR, HSD17B1 and BGN) linked to sex-steroid hormones or X-linked as genetic modifiers of AO. We also evaluated if mitochondrial DNA (mtDNA) copy number is associated with AO.
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