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Transthyretin (TTR or TBPA) is a transport protein in the plasma and cerebrospinal fluid that transports the thyroid hormone thyroxine (T 4) and retinol to the liver. This is how transthyretin gained its name: trans ports thy roxine and retin ol .
Both mutant and wild-type transthyretin comprise the aggregates because the TTR blood protein is a tetramer composed of mutant and wild-type TTR subunits in heterozygotes. Several mutations in TTR are associated with FAC, including V122I, V20I, P24S, A45T, Gly47Val, Glu51Gly, I68L, Gln92Lys, and L111M.
Wild-type transthyretin amyloid (WTTA), also known as senile systemic amyloidosis (SSA), [1] is a disease that typically affects the heart and tendons of elderly people. It is caused by the accumulation of a wild-type (that is to say a normal ) protein called transthyretin .
These proteins include: transthyretin (ATTR, the most commonly implicated protein), apolipoprotein A1, and gelsolin. [4] Due to the rareness of the other types of familial neuropathies, transthyretin amyloidogenesis-associated polyneuropathy should probably be considered first. [5] "FAP-I" and "FAP-II" are associated with transthyretin.
Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis abbreviated also as ATTR (hereditary form), or Corino de Andrade's disease, [1] is an autosomal dominant [2] neurodegenerative disease.
ATTR can be identified using isoelectric focusing which separates mutated forms of transthyretin. Findings can be corroborated by genetic testing to look for specific known mutations in transthyretin that predispose to amyloidosis. [10] AA is suspected on clinical grounds in individuals with longstanding infections or inflammatory diseases.
Amyloid cardiomyopathy (stiff heart syndrome) [5] is a condition resulting in the death of part of the myocardium (heart muscle). It is associated with the systemic production and release of many amyloidogenic proteins, especially immunoglobulin light chain or transthyretin (TTR). [6]
Thyroxine-binding globulin (TBG) is a globulin protein encoded by the SERPINA7 gene in humans. TBG binds thyroid hormones in circulation.It is one of three transport proteins (along with transthyretin and serum albumin) responsible for carrying the thyroid hormones thyroxine (T 4) and triiodothyronine (T 3) in the bloodstream.