Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Transthyretin

Vom TTR-Gen wird das Transthyretin kodiert, ein Transportprotein, welches das Schilddrüsenhormon im Plasma und in Zerebrospinal-Flüssigkeit transportiert. Es ist auch das Transportprotein für Retinol (Vitamin A). Das reife Protein ist ein Homotetramer bestehend aus 4 identischen Untereinheiten. Mutationen führen in variabler Ausprägung zu verschiedenen Erkrankungen mit Amyloidablagerungen. Die Vererbung ist vornehmlich autosomal dominant, obwohl mit variabler Penetranz.

Proteinstruktur

4 identische von diesem Gen translatierte Proteine werden zu Homotetrameren zusammengeführt und in die Blutbahn oder den Spinalkanal abgegeben.

Expression

Das Protein wird überwiegend in der Leber gebildet. Weitere Bildungsorte sind Plexus choroideus, Pigmentepithel der Retina und das Pancreas. Das reife Protein wird in die Blutbahn oder in die Zerebrospinal-Flüssigkeit sezerniert.

Phänotyp

Verschiedene amyloidbedingte Phänotypen können klinisch unterschieden werden: Familiäre Amyloidpolyneuropathie (FAP), Amyloid-Kardiomyopathie (FAC), senile systemische Amyloidose (SSA), amyloid Glaskörpereinlagerungen, und das Karpaltunnel-Syndrom. Da das Protein auch eine Funktion im Metabolismus des Schilddrüsenhormons besitzt existiert auch hier ein Phänotyp, der als euthyreote Thyreotoxikose bezeichnet wird.

Pathologie

Mutationen des Gens führen zu Störungen der Faltung dieses Proteins. Das so missgebildete Protein lagert sich im Extracellular-Raum als Amyloid zusammen und führt zu Störungen der Organfunktion.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

ATTR-Amyloidose
TTR

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Saraiva MJ et al. (1983) Presence of an abnormal transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy.

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179.

Shoji S et al. (1981) Amyloid fibril protein in familial amyloid polyneuropathy.

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180.

Rubinow A et al. (1981) Skin involvement in familial amyloidotic polyneuropathy.

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181.

Pras M et al. (1983) Primary structure of an amyloid prealbumin variant in familial polyneuropathy of Jewish origin.

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182.

Julien J et al. (1983) [Familial amyloid neuropathies in 3 families of French origin].

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183.

Saraiva MJ et al. (1983) Studies on plasma transthyretin (prealbumin) in familial amyloidotic polyneuropathy, Portuguese type.

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184.

Nakazato M et al. (1984) Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin.

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185.

Sasaki H et al. (1984) Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques.

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186.

Sakoda S et al. (1983) Genetic studies of familial amyloid polyneuropathy in the Arao district of Japan: I. The genealogical survey.

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187.

Dwulet FE et al. (1984) Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin.

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188.

Tawara S et al. (1983) Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type).

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189.

Steen L et al. (1983) Familial amyloidosis with polyneuropathy. A long-term follow-up of 21 patients with special reference to gastrointestinal symptoms.

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190.

Benson MD et al. (1983) Prealbumin and retinol binding protein serum concentrations in the Indiana type hereditary amyloidosis.

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191.

Moses AC et al. (1982) Familial euthyroid hyperthyroxinemia resulting from increased thyroxine binding to thyroxine-binding prealbumin.

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192.

Dwulet FE et al. (1983) Polymorphism of human plasma thyroxine binding prealbumin.

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193.

Shirahama T et al. (1982) Senile cerebral amyloid. Prealbumin as a common constituent in the neuritic plaque, in the neurofibrillary tangle, and in the microangiopathic lesion.

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194.

Skinner M et al. (1981) The prealbumin nature of the amyloid protein in familial amyloid polyneuropathy (FAP)-swedish variety.

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195.

Kito S et al. (1980) Studies on familial amyloid polyneuropathy in Ogawa Village, Japan.

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196.

None (1995) Transthyretin mutations in health and disease.

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197.

Jacobson DR et al. (1995) Transthyretin Ser 6 gene frequency in individuals without amyloidosis.

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198.

Yamamoto K et al. (1994) Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55-->Pro).

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199.

Uemichi T et al. (1994) Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).

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200.

Ferlini A et al. (1994) A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis.

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201.

Hesse A et al. (1993) Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant.

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202.

Benson MD et al. (1993) A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.

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203.

Benson MD et al. (1993) A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.

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204.

Alves IL et al. (1993) Thyroxine binding in a TTR Met 119 kindred.

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205.

Yasuda T et al. (1994) Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly).

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206.

McCutchen SL et al. (1993) Transthyretin mutation Leu-55-Pro significantly alters tetramer stability and increases amyloidogenicity.

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207.

Almeida Mdo R et al. (1993) Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.

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208.

Murakami T et al. (1994) Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.

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209.

Shiomi K et al. (1993) A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis.

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210.

Episkopou V et al. (1993) Disruption of the transthyretin gene results in mice with depressed levels of plasma retinol and thyroid hormone.

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211.

Ii S et al. (1993) The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect.

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212.

Nordvåg BY et al. (1993) Retrospective molecular detection of Transthyretin Met 111 mutation in a Danish kindred with familial amyloid cardiomyopathy, using DNA from formalin-fixed and paraffin-embedded tissues.

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213.

Tashima K et al. (1995) Change in the age of onset in patients with familial amyloidotic polyneuropathy type I.

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214.

Reilly MM et al. (1995) Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77).

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215.

Jenne DE et al. (1996) A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis.

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216.

Jacobson DR et al. (1996) Revised transthyretin Ile 122 allele frequency in African-Americans.

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217.

Ferlini A et al. (1996) Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.

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218.

Refetoff S et al. (1996) A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.

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219.

Jacobson DR et al. (1997) Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis.

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220.

None (1997) Aging, amyloid, and cardiomyopathy.

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221.

Uemichi T et al. (1997) A trinucleotide deletion in the transthyretin gene (delta V 122) in a kindred with familial amyloidotic polyneuropathy.

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222.

Ando E et al. (1997) Ocular manifestations of familial amyloidotic polyneuropathy type I: long-term follow up.

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223.

Yamamoto K et al. (1998) A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy.

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224.

Blanco-Jerez CR et al. (1998) Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred.

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225.

Myers TJ et al. (1998) Familial amyloid with a transthyretin leucine 33 mutation presenting with ascites.

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226.

Klein CJ et al. (1998) Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy.

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227.

Utsugisawa K et al. (1998) Familial amyloid polyneuropathy related to transthyretin mutation Val30 to Leu in a Japanese family.

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228.

Orphanet article

Orphanet ID 120337 external link
229.

NCBI article

NCBI 7276 external link
230.

OMIM.ORG article

Omim 176300 external link
231.

Wikipedia Artikel

Wikipedia DE (Transthyretin) external link
Update: 14. August 2020
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