A Novel Liquid Chromatography-Mass Spectrometry Method for Transthyretin Variant Detection

Transthyretin (TTR) is a plasma transport protein for thyroxine and retinol-binding protein. TTR misfolding and aggregation causes transthyretin amyloidosis, which has hereditary (ATTRh) and wildtype (ATTRwt) forms. ATTRh is a fatal, autosomal dominant disease linked to over 120 TTR single nucleotide polymorphisms (SNPs). Clinical guidelines recommend TTR genotyping for ATTR patients and relatives of TTR variant carriers to enable treatment and monitoring. The cost of genotyping is a challenge for public health funding.