A lifetime of finding genes to counter heart disease

  1. Geneticist Helen Hobbs found that when people had a mutation in PCSK9, they ended up with lower levels of low-density lipoprotein (LDL) or bad cholesterol.This mechanism of mutation protected people against heart disease without any side effects.
  2. She had won the 2016 Breakthrough Prize in Life Sciences for discovery of a mutation in a gene called PCSK9,
  3. The PCSK9 are a new class of injectable drugs that reportedly reduce ‘bad’ cholesterol levels by up to 60% when combined with a statin (another class of drugs prescribed to help lower cholesterol levels).
  4. Low-density lipoprotein cholesterol is considered the ‘bad’ variant of cholesterol as it contributes to plaque deposition, leading to the hardening and narrowing of arteries or ‘atherosclerosis’ (thickening of artery walls owing to accumulation of white blood cells).