A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers

• Our results are the first to show the presence of a 3'UTR polymorphism on the V30M haplotype in Swedish carriers, which can serve as a miRNA binding site potentially leading to down-regulated expression from the mutated TTR allele. This finding may be related to the low penetrance and high age at onset of the disease observed in the Swedish patient population.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Nyckelord

Allele Frequency; Amyloidosis; Amyloid Neuropathies

Familial; Humans; MicroRNA; Polymorphism

Single Nucleotide; Transthyretin; 3' Untranslated Regions/genetics

Clinical genetics

Klinisk genetik

genetik

Genetics

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)