The addition of the amino acid homocysteine to the mutated transthyretin (TTR) protein found in patients with familial amyloid polyneuropathy may contribute to heart problems in these patients, a recent study suggests. Specifically, this addition destabilizes and promotes the aggregation of mutant TTR protein, but it does not affect the…
Noninvasive imaging techniques may be helpful for identifying and monitoring eye problems in familial amyloid polyneuropathy (FAP), a study shows. Titled “Multimodal retinal imaging of familial amyloid polyneuropathy,” the study was published in Ophthalmic Genetics. FAP is caused by misfolding of the protein transthyretin (TTR), which then…
Genetic sequencing can help to diagnose familial amyloid polyneruopathy (FAP) in people diagnosed with neuropathy of unknown origin — and sequencing is more reliable than biopsies for diagnosis, the results of a recent study suggest. The study, titled “Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic…
Ambry Genetics and Akcea Therapeutics, an affiliate of Ionis Pharmaceuticals, are expanding a free genetic testing and counseling program called hATTR Compass. hATTR Compass is a no-cost program for confidential genetic testing and genetic counseling for people who are suspected of having hereditary ATTR amyloidosis, also…
Liver transplants can significantly prolong survival in familial amyloid polyneuropathy (FAP) patients, and the longer they must wait for the transplant may mean the disease will worsen after the procedure. Those findings come from the study “Liver Transplantation for Familial Amyloid Polyneuropathy (Val30Met): Long-Term Follow-up Prospective Study…
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