WP 3 Genetic analyses

Among the many amyloid associated diseases, systemic hereditary amyloidoses represent a specific group. They are autosomal dominant disorders underlined by several genes. In all these diseases, mutations affect the amyloid protein itself and appear as the most important factor determining the observed phenotype. However, many variations are known in the disease phenotypes that are not explained solely by the mutation. Penetrance and expressivity are strongly variable suggesting that other factors are certainly involved, including modifier genes and environment.

Genetic factors also play a role in other types of amyloidoses, particularly in inflammatory associated amyloidosis.

The objectives of the workpackage 3 of the EURAMY project are to better understand these varieties.

Main topics of the WP3 project are

  1. To establish a register of mutations for dominant amyloidoses at the European level (ATTR, AFib, AAPOAI, AAPOAII, ALys, AGel).

  2. To decipher the role of genetic modifiers influencing the phenotype variation in autosomal dominant amyloidosis.

  3. To define the role of genetic factors for amyloidosis in inflammatory disorders.