Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases

Abstract

Abstract Background Transthyretin-related hereditary amyloidosis (ATTR) is a systemic disease characterized by extracellular deposits of amyloid due to the autosomal dominant inheritance of a mutation in the TTR gene (18q12.1). Although described worldwide, it is a rare disease, limited to certain parts of the world. The aim of this manuscript is to describe the presence and characteristics of ATTR in Mexico. Methods From 2010 through the database of the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán we selected cases that had the diagnosis of “amyloidosis”, with any etiology, reviewed the files and selected those with suspected hereditary etiology. Results We identified 111 subjects with 5 different pathological mutations, none of them with the classic Val30Met mutation. Mutations found were Ser50Arg in 83 (74%), Gly47Ala in 14 (13%), Ser52Pro in 12 (11%) and V122I /Y116H in 2 (2%). The majority of positive patients were from the States of Morelos and Guerrero. Twenty different families were included. The most common causes of death was urosepsis and cardiac failure. Conclusions In Mexico there are endemic foci of ATTR, mainly in the states of Morelos and Guerrero. The major mutations are different from the most common global mutation Met30Val.

Keywords

• Hereditary amyloidosis
• TTR Ser50Arg
• Ser52Pro
• Gly47Ala mutations