Tag: TTR gene

  • Transthyretin Familial Amyloid Polyneuropathy

    Transthyretin Familial Amyloid Polyneuropathy: Definition and Description of Transthyretin Familial Amyloid Polyneuropathy: Transthyretin Familial Amyloid Polyneuropathy (ATTR-FAP) is a rare hereditary disorder caused by the accumulation of amyloid proteins in various tissues and organs, particularly affecting peripheral nerves. ATTR-FAP is related to the misfolding of transthyretin (TTR), a protein produced by the liver that is…

  • Isoleucine 33 Amyloidosis

    Isoleucine 33 Amyloidosis Definition and Description of Isoleucine 33 Amyloidosis Isoleucine 33 Amyloidosis is a rare form of systemic amyloidosis, characterized by the abnormal accumulation of amyloid fibrils derived from the protein Isoleucine-33 (I33). This protein misfolding leads to the deposition of amyloid proteins in various organs, severely disrupting normal function. Amyloidosis can affect the…