SNP Shot: Genomic Insights

Tangier disease is a genetic condition where individuals have extremely low amounts of high-density lipoprotein (HDL) in their bloodstream. HDL, also known as "good cholesterol," is responsible for removing cholesterol and phospholipids from body tissues and transporting them to the liver for disposal. Low HDL levels in Tangier disease result in a slightly higher risk of heart and blood vessel problems (cardiovascular disease).

Besides low HDL, Tangier disease can cause other symptoms. These include mildly elevated levels of triglycerides (fats) in the blood (mild hypertriglyceridemia), nerve problems (neuropathy), and enlarged tonsils with an orange hue. People with this disease are also prone to atherosclerosis, a condition where fatty deposits and scar tissue build up inside the arteries. Some individuals may also experience an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the cornea (corneal clouding), and type 2 diabetes.

Inheritance:

Tangier disease is inherited through an autosomal recessive pattern. This means that for a person to have the disease, they must inherit a mutated copy of the responsible gene from both parents. While each parent carries one copy of the mutated gene, they usually don't exhibit any signs or symptoms of Tangier disease themselves.