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Bad Cholesterol - Genetic Disorder?

posted on 10/20/2016 Facebook Facebook

When somebody mentions cholesterol many will say, how is your HDL? Cholesterol travels through the blood attached to lipoproteins. From a healthprospective we try and maintain the good cholesterol (High density lipoproteins or HDL) and reduce the bad cholesterol (Low density lipoproteins or LDL).The high-density lipoproteinaids the body in removal of bad cholesterol in the blood whereas LDL causes build of plaque within arteries restricting blood flow and hardening of thearteries that will lead to cardiovascular disease. Management of cholesterol levels is through a number of ways like low cholesterol diets, weight loss and medicines.


Cholesterol isa crucial fat-like substance produced by the liver that is required for bodilyfunctions. It is the main sterol synthesized and transported in the bloodplasma of all animals. Cholesterol is responsible for a number offunctions such as:

1. Building and maintenance of the cell membranes
2. Production of sex hormones (androgens and estrogens)
3. Production of bile
4. Metabolism of fat-soluble vitamins, including vitamins A, D, E, and K
5. Insulation of nerve fibers
6. Conversion of sunshine into vitamin D

Cholesterol being a vital a part of our development can have a dark side. The gene DHCR7 (7-dehydrocholesterolreductase) found on chromosome 11 is responsible for the production of cholesterol and mutations in the gene might cause a metabolic disorder called SLOS (Smith-Lemli-Opitz Syndrome).This disorder currently occurs once out of each 20,000 births. Individuals with SLOS are unable to produce enough cholesterol to support normal growth and development. This leads to developmental delays, physical malformations, mental retardation and issues with major organs like the heart. Presently the only treatment for the disorder is cholesterol supplementation to boost growth and developmental progress.


SLOS isinherited in an autosomal recessive pattern, basically both copies of the genewithin a cell are mutated. This identifies that the parents of a person withSLOS each carry a mutated copy of the gene, however they do not have anysymptoms or signs of SLOS. It may be that genetic counseling may be one form ofa preventative method for the disorder. 

This brings up a great question,should genetic counseling be mandatory for potential parents to decrease transmission of severe genetic disorders?

For free Pre-geneticcounseling call us on 1800-3070-6727 Orto know more visit https://www.positivebioscience.com/BlogDetails.aspx?id=46

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