Familial amyloidosis

Definition:

The amyloidoses are a group of diseases in which proteins that are normally soluble deposit extracellularly in tissues as insoluble fibrils. The fibrils have a characteristic beta-pleated sheet configuration that renders them avid for Congo red dye. In the familial amyloidoses, a gene mutation inherited in an autosomal-dominant manner results in a single amino acid substitution that renders a plasma protein amyloidogenic. Mutations in the TTR gene are the most common cause of familial amyloidosis. The clinical features of familial amyloidosis vary depending on the underlying amyloidogenic protein and the particular amino acid affected by the mutation, ranging from peripheral and autonomic neuropathy to cardiomyopathy.

References:

[1]. K Yamakawa-Kobayashi, et al. Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey. Hum Mol Genet. 1999 Feb;8(2):331-6. [Content Brief]

[2]. Laura M Dember, et al. Emerging treatment approaches for the systemic amyloidoses. Kidney Int. 2005 Sep;68(3):1377-90. [Content Brief]

[3]. M B Pepys, et al. Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature. 1993 Apr 8;362(6420):553-7. [Content Brief]

[4]. M D Benson, et al. Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. Nat Genet. 1993 Mar;3(3):252-5. [Content Brief]

[5]. Sophie Valleix, et al. Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin. N Engl J Med. 2012 Jun 14;366(24):2276-83. [Content Brief]

[6]. Yukio Ando, et al. Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol. 2005 Jul;62(7):1057-62. [Content Brief]

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