Question

What is familial hypercholesterolemia and what are its causes?

     What is familial hypercholesterolemia and what are its causes?

Biochemistry

Jeremy M. Berg, John… 8th Edition

Chapter 26, Problem 14

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Solved by Expert Jessica Honkomp

08/02/2020

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It is characterized by high cholesterol levels in the blood, specifically the low-density lipoproteins (LDL), often referred to as the "bad cholesterol". Show more…

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What is familial hypercholesterolemia and what are its causes?

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Key Concepts

Genetic Mutations

Familial hypercholesterolemia is caused by mutations in genes involved in cholesterol regulation, most notably in the LDL receptor gene. Mutations in other genes such as APOB and PCSK9 may also contribute, disrupting normal cholesterol processing and increasing blood cholesterol levels.

Familial Hypercholesterolemia

A genetic disorder characterized by extremely high levels of low-density lipoprotein (LDL) cholesterol in the blood, leading to premature cardiovascular disease. It is primarily a lipid metabolism disorder resulting from impaired clearance of LDL cholesterol.

Autosomal Dominant Inheritance

The condition is typically inherited in an autosomal dominant pattern, meaning that inheriting one copy of the mutated gene from an affected parent is sufficient to develop the disorder. This pattern of inheritance explains both the familial occurrence and the high penetrance of the disease.

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