Leptin – Neuigkeiten von einem alten Bekannten

 

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Zusammenfassung

Leptin ist ein Hormon des weißen Fettgewebes. Seine Konzentration im Blut spiegelt die Energiereserven des Körpers wider. Es reguliert die Nahrungsaufnahme, das Sättigungsgefühl sowie den Energieverbrauch und beeinflusst ferner den Blutdruck, den Glukose- und Lipidstoffwechsel, das Immunsystem und die Fruchtbarkeit.

Homozygote Mutationen im Leptin-Gen äußern sich im Auftreten einer kongenitalen Leptindefizienz. Betroffene Kinder fallen nach der Geburt durch ein mangelndes Sättigungsgefühl, eine ausgeprägte Hyperphagie und eine sich folgend entwickelnde extreme Adipositas auf. Begleitend kommt es zu schweren metabolischen, hormonellen und immunologischen Störungen. Nur bei korrekter Diagnose kann eine effektive Hormonersatztherapie mit rekombinantem humanen Leptin erfolgen. Aufgrund des unterschiedlichen biologischen Verhaltens einzelner Mutationen kann eine solche Diagnose sich jedoch als schwierig erweisen.

Summary

Leptin is a white adipose tissue hormone whose circulating levels reflect the energy stores of the body. It has a pivotal role in the regulation of food intake, satiety and energy expenditure. It furthermore exerts an influence on blood pressure, glucose and lipid metabolism, immunity and fertility.

Homozygous mutations of the leptin gene result in congenital leptin deficiency. Affected children show massive hyperphagia and severe early-onset obesity, but also pronounced metabolic, hormonal, and immunological derangements. Patients can be treated with daily injections of recombinant human leptin. However, diagnosis of the disease is challenging because different mutations come along with distinct biological behaviors of the mutant proteins.

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