Why are some amyloidoses systemic? Does hepatic “chaperoning at a distance” prevent cardiac deposition in a transgenic model of human senile systemic (transthyretin) amyloidosis?

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Transthyretin 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...

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Patient experience with hereditary and senile systemic amyloidoses: a survey from the Amyloidosis Research Consortium

Background Amyloidosis is caused by the accumulation of misfolded proteins, resulting in dysfunction of vital organs (eg, heart, kidneys, nervous system). Diagnosis and access to appropriate therapy pose significant challenges, and there is a paucity of literature depicting the patient (pt) experience. We conducted a survey to identify the challenges in establishing a diagnosis of amyloidosis a...

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Spotting senile systemic amyloidosis: why we miss it

Methods At a national referral centre, over 4 years, 87 consecutive recruited patients wtATTR amyloidosis underwent CMR. The diagnosis was confirmed by histological proof of amyloid (62%), exclusion of TTR mutations (100%) and characteristic features including bone tracer scanning (DPD grade 2-3 in 100%). CMR had precipitated the referrals in 71% of the cohort. Standard long and short axis cine...

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(99m)Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses.

BACKGROUND Differentiating immunoglobulin light-chain (AL) from transthyretin-related cardiac amyloidoses (ATTR) is imperative given implications for prognosis, therapy, and genetic counseling. We validated the discriminatory ability of (99m)Tc-pyrophosphate ((99m)Tc-PYP) scintigraphy in AL versus ATTR. METHODS AND RESULTS Forty-five subjects (12 AL, 16 ATTR wild type, and 17 ATTR mutants) un...

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Tc-Pyrophosphate Scintigraphy for Differentiating Light-Chain Cardiac Amyloidosis from the Transthyretin-related Familial and Senile Cardiac Amyloidoses

Background—Differentiating immunoglobulin light-chain (AL) from transthyretin-related cardiac amyloidoses (ATTR) is imperative given implications for prognosis, therapy, and genetic counseling. We validated the discriminatory ability of Tc-pyrophosphate scintigraphy (TcPYP) in AL vs. TTR-related cardiac amyloidoses. Methods and Results—45 subjects (12 AL, 16 ATTR wild-type, and 17 ATTR mutants)...

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ژورنال

عنوان ژورنال: The FASEB Journal

سال: 2012

ISSN: 0892-6638,1530-6860

DOI: 10.1096/fj.11-189571