The phenotypical expression of an European inherited TTR amyloidosis in Brazil
نویسندگان
چکیده
Background Brazil is a country of Portuguese colonization with massive numbers of immigrants and Portuguese descendants (25 millions). At least half of all Brazilian Y chromosomes are from Portuguese origin. Nevertheless, this population suffered miscegenation with native Indians and African descendants. African descendants Brazilians have 48% of non-African genes, probably from Portuguese ascendance. In a previous work from our center a common haplotype was demonstrated in Portuguese and Brazilian patients from 22 families and the calculation of the most recent common ancestor in 13 families demonstrated that it has occurred at 26 past generations about 650 years ago hence before the time of Brazil’s discovery (1500) [1]. The objective of this work is to characterize demographic and clinical aspects of Brazilian patients presenting with ATTR in light of the clear Portuguese origin of the cases in a background of miscegenation and heterogeneity of the population.
منابع مشابه
Successful Diflunisal Desensitization in a Transthyretin Amyloidosis Patient with NSAID Allergy: A Case Report
Introduction: Amyloid diseases have been known to be hereditary, including transthyretin (TTR) amyloidosis where subunit protein mutations may occur in genes for TTR leading to the deposition of fibrils (low molecular weight subunits (5 to 25 kD) of proteins) in extracellular tissues. By reducing the formation of TTR amyloid, diflunisal, a nonsteroidal anti-inflammatory drug (NSAID), has shown ...
متن کاملEarly identification of transthyretin-related hereditary cardiac amyloidosis.
Amyloidosis is characterized by the extracellular deposition of highly-organized fibrillar aggregates showing a cross-beta super-secondary structure (1). Several proteins are amyloidogenic in humans, resulting in different clinical presentations, either systemic or localized. Transthyretin-related hereditary amyloidosis (ATTR) is a late-onset, dominantly inherited systemic amyloidosis. Heterozy...
متن کاملAbstracts from the First European Meeting for ATTR Amyloidosis for Doctors and Patients
s from the First European Meeting for ATTR Amyloidosis for Doctors and Patients Paris, France. 02-03 November 2017 Published: 2 November 2017 Fig. 1. Conference poster Introduction David Adams, Philip Hawkins, Hartmut Schmidt Department of Neurology, NNERF, Bicêtre Hospital, Assistance Publique Hôpitaux de Paris, Paris-Sud University, Le Kremlin-Bicêtre, France; National Amyloidosis Centre, Div...
متن کاملTransthyretin Amyloidosis in Aged Vervet Monkeys, as a Candidate for the Spontaneous Animal Model of Senile Systemic Amyloidosis
Transthyretin (TTR) amyloidosis is classified into systemic senile amyloidosis (SSA), due to senescent events caused by the wild type TTR gene, and familial amyloidotic cardiomyopathy (FAC) and familial amyloidotic polyneuropathy (FAP), which are inherited diseases caused by mutant TTR genes (Ando et al., 2005; Buxbaum, 2009; Rapezzi et al., 2010). TTR is biochemically stable as a tetramer; how...
متن کاملTransthyretin-related hereditary amyloidosis with recurrent vomiting and renal insufficiency as the initial presentation
RATIONALE Hereditary amyloidosis is diagnosed worldwidely with an increasing incidence. As the most common form, transthyretin-related hereditary amyloidosis (ATTR amyloidosis) is an autosomal dominant inherited disease due to mutations of TTR. Over the past several decades, more than 130 mutations have been reported. Previous studies suggested that ATTR amyloidosis initially showed polyneuropa...
متن کامل