Hereditary transthyretin (TTR) amyloidosis (hATTR) is a rare, life-threatening disorder caused by amyloidogenic coding mutations located in the TTR gene.
To date, more than 130 amyloidogenic mutations have been identified in the coding regions of the TTR gene, which are the cause of the disorder.
Previous data strongly support the role of non-coding regulatory variation on TTR gene expression as one of the mechanisms affecting the phenotypic manifestations observed in carriers of TTR amyloidogenic mutations.
Epigenetic modifications are fundamental mechanisms in modulating a wide range of molecular functions and potential targets to develop
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