What is a more tangent disease?

Tangier OneSe is an unusual genetic disorder involving a gene that encodes a successful transport lipoprotein with a high density (HDL) from body tissue and into the bloodstream. Patients with this disorder have very low HDL levels in their blood speeches and are experiencing cholesterol accumulation in their organs and other tissues. This can lead to health problems later in life. It cannot be cured, but people can take a few steps to handle it.

This condition was identified in the 60s on the island outside the US State of Virginia. In the age of 90, the gene responsible for tanginer disease was identified, showing that it was a mistake of cholesterol transport. Patients are usually diagnosed with this condition in late childhood or early adulthood. The blood test will show low HDL levels and high fat levels because HDL normally transmits fat from the bloodstream. In addition, the patient may have enlarged organs showing oily bearings.Cha of nerve function, due to cholesterol imbalance in the body. This can lead to numbness, armor and other problems associated with non -functional nerves. Over time, the expansion of organs can lead to other health problems such as the schedule of liver function. High levels of fat in the bloodstream can become a contributor to cardiovascular disease, which exposes patients risk of conditions such as heart attack and stroke.

This deficiency of lipoprotein is recessive. People must inherit both copies of the involved gene to develop the disease. In other cases, people will with the potential to hand over the gene to their children. People with a family history of Tangier's disease can apply for testing to see if they have a gene and can consider it in preparation for children, especially if their partners also have a Gen or the state.

Scientists interested in genetic diseases are considering applying a number of techniques on herCH treatment. In the short term, measures are intended to solve symptoms by the primary approach to management, but in the future, possibilities such as gene therapy may be possible. In gene therapy, defective genes could be rewritten or off therapy administered after birth; In this case, the HDL transport gene could be inserted so that patients began to express it and transfer HDL deposits from the body tissues and into the bloodstream.