Associated Disorders
Mutations within the VLDLR gene lead to a multitude of disorders of varying severities. These disorders are usually associated with cholesterol homeostasis or a disorganization of neuron ordering in the brain due to disruption of the reelin pathway. The most prominent of these diseases are type I lissencephaly, VLDR-associated cerebellar hypoplasia, and atherosclerosis. In contrast to causing diseases, VLDLR has also been identified as a possible remedy for some disorders. Implementation of VLDLR into the liver may cure familial hypercholesterolemia (FH) in patients who either have defective LDLR or have defective immune systems that attack this protein. Since VLDLR is non-immunogenic it does not initiate an immune response, thus it is able to function normally under defective immune systems. In addition, being that apoE, a major ligand of VLDLR, is a leading genetic risk factor for Alzheimer’s disease, VLDLR may play a role in modulating the risk of this disorder. VLDLR has also been shown to reduce the chances of premature heart disease and stroke because VLDLR clears out lipoprotein A (Lp(a)), a major inherited risk factor for these diseases.
Read more about this topic: VLDL Receptor
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