The TTR gene, located on chromosome 18q12.1, encodes the 127-amino acid monomeric subunit that assembles into the functional tetrameric protein (NCBI Gene). More than 140 pathogenic variants in the TTR gene have been identified, many associated with hereditary transthyretin amyloidosis (hATTR).

1. Missense mutations (e.g., Val30Met, Thr60Ala, Val122Ile) destabilize the tetramer, increasing the risk of amyloid fibril deposition.
2. Phenotypic heterogeneity: Different mutations correlate with distinct clinical syndromes, including polyneuropathy, cardiomyopathy, or mixed phenotypes.
3. Wild-type TTR (wtTTR): Even without mutations, age-related destabilization of TTR leads to senile systemic amyloidosis, frequently underdiagnosed in elderly patients with heart failure.

Antibody kits targeting TTR (commonly Sandwich ELISA, AlphaLISA) facilitate quantitative measurement of TTR in biological matrices like serum, plasma, CSF, urine, or cell lysates. They’re vital for research into neurodegeneration, liver function, amyloid diseases, and biomarker discovery.

Examples of Kit Platforms :

1. Sandwich ELISA Kits : Pre-coated microplates with capture antibodies and detection via HRP-conjugated secondary antibodies—for human, rat, mouse, chicken, rabbit, etc.
2. AlphaLISA Kits : Homogenous, no-wash assays enabling fast TTR quantification with detection ranges down to 14.5 pg/mL

1. Sensitivity & Range : Most kits detect TTR in the 0.1–50 ng/mL range, depending on species and format.
2. Sample Types : Suitable for serum, plasma, CSF, urine, milk, saliva, cell culture supernatants, lysates.
3. Assay Format : Usually 96-well plates, with protocols lasting ~2–4 hours

-Neurodegeneration & CNS Research

TTR is secreted into CSF and implicated in neuroprotective mechanisms. Quantifying TTR aids studies in Alzheimer’s and amyloid clearance.

-Biomarkers for Nutritional and Liver Status

TTR levels correlate with protein-energy malnutrition and acute-phase response. Its short half-life (~2 days) makes it sensitive for nutritional status.

-Amyloidosis Characterization

Mutant TTR forms amyloid fibrils in familial amyloid polyneuropathy (hATTR). Kits help monitor TTR levels pre- and post-treatment . Genetic testing complements protein assays; several gov sources such as the LabCorp TTR single gene test document that approach.

-Drug Mechanism Studies

TTR stabilizers (e.g., diflunisal) and RNAi therapeutics like Vutrisiran target TTR levels. Antibody assays monitor pharmacodynamics in preclinical and clinical settings.