Abstract
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.
Highlights
Familial amyloid polyneuropathy (FAP ATTRV30M) is an autosomal dominant systemic amyloidosis, due to a point mutation in the transthyretin (TTR) gene
We evaluated if mitochondrial DNA copy number is associated with AO
Concerning BGN gene, in the male group no significant results were found associated with AO but, in the female group, one polymorphism was associated with a later AO
Summary
The hidden story behind gender differences in familial amyloid polyneuropathy (FAP) ATTRV30M. Diana Santos1*, Teresa Coelho, Miguel Alves-Ferreira, Jorge Sequeiros, Isabel Alonso, Manuela Grazina, Alda Sousa, Carolina Lemos. From First European Congress on Hereditary ATTR amyloidosis Paris, France. From First European Congress on Hereditary ATTR amyloidosis Paris, France. 2-3 November 2015
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