Mutation+that+Causes+the+Disorder

__**What the Mutation does**__

Famial Hypercholesterolmia is caused by a problem with your LDL receptors. These receptors keep your bad cholesterol levels stable. This mutation is caused by over a 1000 different mutations, but the most common is mutations in the LDLR gene this gene makes the protein that stops the LDL receptors form doing their jobs (Hypercholesterolemia). A person can get this if either parent has it. This can cause major health problems if left untreated. Many heart attacks are caused from untreated FH (Famial Hypercholesterolmia).

The reason the protein doesn't work is because the mutation stops the completion of the protein. The mutation stops the completion of the protein. This can lead to a series of problems. The problem can make the the receptors less effective or it can cause less of the receptors to form. When this happens it forms a non-sense gene. This type of gene doesn't create anything wrong, it deleats things that are necessary.

Below is a video that helps explain it. media type="youtube" key="PbfuLpXoI5g" height="315" width="560" __**Location**__ This gene is located on the 19th cromesome, on the short leg, base pairs11,200,037 to 11,244,505. Its scientific location is 13.2 (LDLR). __**Effect on Protein**__

When someone has FH there proteins called LDL Receptors have problems. One major problem is that they can no longer absorb LDL cholesterol. This makes it harder for the body to keep your cholesterol level normal. The cells will also produce a form of LDL cholesterol that adds to the already high amount of cholesterol in the body. This causes your arteries to clog very easily. This leads to heart attacks and other heart problems.