Hereditary Amyloidosis2019-09-22T17:56:46+00:00

Hereditary Amyloidosis

The section Hereditary Amyloidosis is under construction and will be completed by the end of the year. A summary is presented below.

Introduction

  • There are many inheritable gene mutations that can cause amyloidosis and new amyloidogenic mutations continue to be discovered at a steady rate
  • These mutations mainly involve the genes encoding the following proteins and their associated organ involvement;
    • TTR – heart and nerves
    • Fibrinogen A alpha – kidney
    • Apolipoprotein A1 – kidney, liver and occasionally nerves
    • Gelsolin – eye, skin and cranial nerves
    • Lysozyme – kidney
  • The vast majority of cases of hereditary amyloidosis are caused by TTR mutations
  • The pattern of inheritance and genetic mechanisms for amyloidogenic mutations have the following commonalities
    • Caused by a single base substitution
    • Autosomal dominant inheritance pattern
    • Incomplete penetrance
    • Variable phenotype (even within the same gene mutation)
    • Family history is rare (observed in only » 35%) except in endemic populations
  • Genetic therapies have now been developed for those with ATTRv