BDNF V66M polymorphism and brain functions

Abstract

Brain derived neurotrophic factor (BDNF) plays important roles in neuronal survival, axonal and dendritic growth, synaptic plasticity, learning and memory and emotional behavior. Recently, a single nucleotide polymorphism (SNP) in the BDNF gene leading to a valine to methionine substitution at position 66 in BDNF prodomain (Val66Met) has been found to decrease activity-dependent BDNF secretion and to be associated with increased susceptibility to neuropsychiatric disorders. BDNF Val66Met polymorphism only exists in human and represents the first genetic alteration in a neurotrophin that has been linked to a human disease. In this chapter, we will focus on the biological consequences of BDNFVal66Met polymorphism in the context of central nervous system structure and function with combined molecular and cellular, human behavioral and imaging, and transgenic mouse studies.