Gene TTR

Also known as

Transthyretin, Prealbumin, PALB, TBPA

Overview

TTR (Transthyretin) encodes transthyretin, a transport protein synthesized primarily in the liver and choroid plexus of the brain. This protein plays a dual role in the body: it transports thyroid hormone (thyroxine) and retinol (vitamin A) through the formation of a complex with retinol-binding protein. Transthyretin circulates as a homotetramer in blood and cerebrospinal fluid.

Mutations in TTR can cause the protein to misfold and aggregate, leading to a group of conditions known as transthyretin amyloidosis (ATTR). These include familial amyloid polyneuropathy (FAP), familial amyloid cardiomyopathy (FAC), and leptomeningeal amyloidosis. ATTR manifests as progressive peripheral neuropathy, autonomic dysfunction, cardiomyopathy, and in some cases, central nervous system involvement. The age of onset and clinical presentation vary depending on the specific mutation and can range from the third to the eighth decade of life.

Recent advances in treatment, including gene silencing therapies (patisiran, inotersen) and TTR stabilizers (tafamidis), have revolutionized the management of ATTR, making early genetic diagnosis increasingly important. Understanding TTR carrier status enables timely intervention and family counseling, potentially preventing or delaying the onset of debilitating symptoms.

NutraHacker Raw DNA Analysis Products that include this gene

• Carrier Status and Drug Response Report
• Whole Genome Sequencing Critical Genetics Report

Upload raw DNA data to get your very own analysis of gene TTR through your personalized DNA reports.