How would defective elastic fibers impair the functions of the organs and tissues?

Elastic fibers are groups or bundles of specific types of proteins that are called elastins. These protein bundles are found in various connective tissues found in the human body. These elastic fibers are found in such structures as blood vessels and elastic cartilage. There are some medical conditions, including high blood pressure and certain heart defects, that can cause the elastic fibers within the body to fail to develop or function normally.

A special kind of cell known as a fibroblast works together with the smooth muscle cells in the arteries of the body to form elastic fibers. There are three primary components of these fibers, elastin, oxytalan, and elaunin. Elastin is the protein found in connective tissue that gives the tissue its stretchy qualities. Oxytalan is a type of connective tissue found in the gums and other tissues of the mouth. Elaunin is a connective tissue component found in the layer of skin known as the dermis and has a close association with the sweat glands of the body.

Scientific evidence suggests that defects in any of the components making up the elastic fibers have the potential to alter and impair the appearance of these fibers. These alterations can lead to a variety of medical conditions, causing a variety of symptoms and complications. While certain cases of heart defects and hypertension, or high blood pressure, can be traced to abnormalities in these fibers, several lesser known conditions are a result of these defects as well.

Dermatolysis is a condition in which the elastic fibers are mutated in such a way that the skin does not have the normal elastic capabilities. This leaves the skin loose, often hanging in what looks like a series of folds. This particular genetic mutation is believed to be inherited for the most part, although some acquired forms have been reported.

Williams syndrome is another medical condition that has been directly linked to a genetic defect during the development of elastic fibers. While mental disabilities and facial defects are present in this condition, these side effects are due to other defective genes that are also present in this disease. The defect involving the elastic fibers leads to a heart defect affecting the aortic valve as well as heart murmurs. Abdominal pain due to conditions such as diverticulitis are common with this disorder as well and may be traced back to the same elastic fiber abnormalities.