Somatic loss-of-function variants in leptin alter adipose tissue physiology by promoting proliferation and impairing differentiation
This study identified a missense LEP c.250C>A, p.(Gln84Lys) somatic variant in a spontaneous lipoma of a lean male, which may lead to a loss of function based on in silico modeling. This finding impliesthat somatic leptin (LEP) alterations may influence adipose tissue physiology independently of central functions and may therefore contribute to pathologies, such as obesity or lipomas Our aim was to investigate whether leptin loss of function may adversely affect adipocyte physiology. Overall design: We used control WT and  leptin knock down in undifferentiated and differentiated adipocytes.