Familial Amyloidosis Polyneuropathy Drug Discovery Service
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Introduction of Familial Amyloidosis Polyneuropathy
Familial amyloidosis polyneuropathy (FAP), also known as familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, or familial amyloid polyneuropathy refers to a rare group of autosomal dominant diseases that the autonomic nervous system and/or other nerves are damaged by protein aggregation and/or amyloid fibril formation. The most commonly implicated proteins include transthyretin, apolipoprotein A1, and gelsolin. According to the different proteins involved, FAP can be classified into FAP-I and FAP-II, associated with transthyretin, FAP-III, associated with apolipoprotein A1, and FAP-IV associated with gelsolin. Among them, transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is the most common type of FAP.
TTR-FAP is often the result of mutations in the transthyretin (TTR) gene. Till now, almost 150 mutations have been detected in the TTR gene and Val30Met is the largest among them. It is worth noting that mutations in the APOA1 and GSN genes are also associated with the abnormal protein buildup in FAP.
Fig.1 Amyloid deposits in the endoneurium in transthyretin familial amyloid polyneuropathy. (Planté-Bordeneuve, 2011)
Symptoms of FAP
Symptoms of FAP usually appear between the ages of 20 and 80. The hallmark symptoms of FAP include symptoms of peripheral neuropathy as well as symptoms of autonomic neuropathy. Heart failure is a common cause of death in FAP patients.
- Paresthesia in the hands and feet
- Gastrointestinal and urinary problems
- Erectile dysfunction
- Heart failure
- Blindness and kidney failure
Diagnostic and Treatment of FAP
Diagnostic methods for the FAP include blood tests, organ biopsies, tissue biopsies, as well as genetic tests. Other medical assessments, such as neurological function tests, muscle function tests, and tests for heart health, also help in the diagnosis and management of FAP.
There is currently no cure for FAP, but many options for reducing symptoms. Two drugs that reduce transthyretin production and avoid the accumulation of amyloid fibrils have been approved by FDA to relieve FAP symptoms and improve patients' quality of life. In recent years, liver transplantation (LT) as a standard treatment since it removes a major source of amyloid TTR. What's more, disease-modifying anti-amyloid therapy is a novel treatment option.
Familial Amyloidosis Polyneuropathy Drug Discovery Service
Equipped with world-leading platforms and extensive experience, Creative Biolabs provides one-stop drug discovery service for our clients. From the basic target identification to the final IND-enabling, we can meet all the needs of customers.
Creative Biolabs is a leading service provider that focuses on neuroscience research. We can assist you in designing the best research outline customized to meet the requirements of clients' programs. If you are interested in our services and products, please do not hesitate to contact us for more details.
Reference
- Planté-Bordeneuve, V.; Said G. Familial amyloid polyneuropathy. The Lancet Neurology. 2011, 10(12): 1086-1097.
