chapter  16
57 Pages

Molecular Mechanisms of Metabolic Disorders

ByAntoni Horst

Practically, all enzymes consist of proteins which, according to the basic rule of genetics, may undergo mutations resulting almost always in disturbances of their activities and, in consequence, in metabolic disorders. The etiology of atherosclerosis is very complex and heterogeneous. The causing agents for atherosclerosis are chylomicrons, very low density lipoproteins, prebeta-lipoproteins, low density lipoproteins, beta-lipoproteins, and high density lipoproteins. Tangier disease is a rare, autosomal recessive disorder characterized by the absence of high density lipoproteins in plasma and an increase of cholesteryl esters stored in several cells. The atherosclerosis lesions occur in the innermost layer of the affected arteries. Collagen is the major protein molecule of most connective tissues, forming the supportive framework of practically all tissues and organs. The Ehlers-Danlos syndrome represents a group of inherited connective tissue disorders: fragile skin, thin tissue scars, hypermobile joints, hernias and various other deformities, short stature, severe kyphoscoliosis, arterial rupture, severe premature periodontal disease.