Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

ATTR-Amyloidose
TTR

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