"The enzyme protein produced by the TMPRSS6 gene is a good target for drug development. Designing a drug that enhances TMPRSS6 activity could augment hemoglobin in people such as cancer and kidney failure patients, who suffer from chronically low levels. A different drug that blocked TMPRSS6 enzyme production might bring down high hemoglobin levels", adds Dr Chambers.

The new paper is published as part of a series of new findings on links between genes and regulation of blood cell characteristics. The Imperial research focuses on two unique aspects in particular.

First, the genomic analysis is based on individuals of European and Indian Asian ancestry, and shows a strong link in both populations, emphasising the global relevance of the finding, by showing it is not confined to individual ancestries.

Second, the paper includes evidence for how the genetic variant affects TMPRSS6 function at a molecular level, and shows that the genetic variation causes an amino acid change near the enzyme's active site, that is likely to affects the way TMPRSS6 reacts with target molecules.

Source: Imperial College London