LD L cholesterol found in plasma binds to receptor proteins and is taken into cells by endocytosis.
A gene found on chromosome 19 is responsible for making LD L receptor proteins in human cell membranes.
*(a) F amilial hypercholesterolaemia (FH) is an inherited condition. The recessive allele (f) makes normal LD L receptor proteins.
The dominant allele (F) makes LD L receptor proteins that do not function.
Exp lain why people who inherit the dominant allele have an increased risk of
If more LDL cholesterol is in the blood it can lead to cardiovascular disease such as heart attack, and it increases the chances of developing atherosclerosis and arterial/venule thrombosis. Therefore, people with this “faulty” allele have an increased risk of developing these diseases or health complications and as such have an increased risk of a premature death.