Orphanet Journal of Rare DiseasesAmyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases
Orphanet Journal of Rare Diseases201813:107
© The Author(s). 2018
Received: 13 November 2017
Accepted: 9 April 2018
Published: 3 July 2018
Keywords
Hereditary amyloidosisTTR Ser50ArgSer52ProGly47Ala mutations
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.
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