Molekulargenetische Mutationsanalyse im Promoterbereich des obese-Gens bei Patientinnen mit Anorexia nervosa

Anorexia nervosa (AN) is an eating disorder, which is characterized by a disturbed body perception, diseased fear of, the refusal, to maintain a to a large extent normal body weight and in females Amenorrhoe. The pronounced weight reduction is accompanied by numerous neuroendocrine and metabolic changes. About 95% of the concerning with this disturbance are female sex. The AN begins usually in the adoleszenz, occasionally in former times and in rare cases only at the adult age. Mortality rates between 10 and 20% were reported. The etiology of the TO is unknown, but seems social factors a role to play. Humans in civilizations are filled from the desire to be thin and adipositas is regarded as unattractive, unhealthily and not worthwhile. About 80 to 90% of the children in the pubertät is aware of this attitude, and over 50% of the girls make a diaet or seize measures to weight control. Since however only a small percentage develops a Anorexia nervosa, still different factors must play a role. Twin -, adoption and family studies gave first references for the fact that beside environmental influences genetic factors played an important role in the weight regularization. The regularization of the body weight is a complex procedure, which is steered by many different peripheral and central processes. Increasing realizations over the physiological operational sequence of the control and development of the body weight can open views of the pathology of the weight regularization. The subject of this work is it to regard the complex phenotype of the Anorexia nervosa from the point of view of a disturbed weight regularization. Straight developed the model conception further for weight regularization in recent past by kloning of relevant genes. The identification and kloning of the obese gene (leptingen), one of these candidate genes, its product leptin as well as its receptors furnished new realizations over the weight regularization. In the context of this work the promotersequence of the leptingen was examined, which is responsible for the regularization of the genexpression, since allele variations in the Promoter could lead to a different transkriptionrate