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Symbol BDNF contributors: mct/pgu/shn - updated : 14-07-2016
HGNC name brain-derived neurotrophic factor
HGNC id 1033
corresponding disease(s) WAGR
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
low RNA and protein levels in brain of Alzheimer and Huntington disease patients
constitutional     --low  
reduced expression of brain-derived neurotrophic factor in the cerebrospinal fluid samples of infants with Ondine's curse
constitutional     --low  
in patients with major depressive disorder
constitutional     --over  
during migraine attacks, and in cluster headache, further supporting the involvement of BDNF in the pathophysiology of these primary headaches
constitutional     --low  
in the caudal nucleus of the solitary tract in the sudden infant death syndrome
constitutional     --low  
significant decrease in BDNF expression and impairment of downstream signaling in the aged hippocampus
  • to bipolar disorder and depression
  • to obsessive -compulsive disorder
  • to aberrant eating behaviors (anorexia and bulimia )
  • to obesity in WAGR
  • to Parkinson disease
  • to psychosis
  • to schizophrenia
  • to obesity
  • Variant & Polymorphism SNP
  • Val66Met is associated with alterations in brain anatomy and memory, and play a key role in genetic predispositions to anxiety and depressive disorders
  • VAL66MET increasing the risk of Parkinson disease and psychosis
  • associated to obesity risk
  • Candidate gene blood BDNF levels could be used as a biomarker to validate drugs aimed at restoring the defective intracellular vesicular dynamics in HD (Huntington disease)
  • mature BDNF may serve as a biomarker for major depressive disorder
  • Therapy target
  • delivery of BDNF reverses the deficit in memory persistence caused by inhibition of hippocampal protein synthesis
  • SystemTypeDisorderPubmed
    manipulation of BDNF/TrkB signaling might have therapeutic efficacy in motor neuron diseases
    neuroprotective effects of entorhinal BDNF administration in animal models of Alzheimer's disease, with extension of therapeutic benefits into the degenerating hippocampus
    a potential therapy for Alzheimer's disease
    , epigenetic or pharmacological enhancement of BDNF-NTRK2 signaling could be a promising strategy for reversing cognitive aging
  • maturation of GABAergic innervation and inhibition was accelerated in mice in which the postnatal rise of brain-derived neurotrophic factor (BDNF) was accelerated and they showed a precocious development of visual acuity and an earlier termination of the critical period for ocular dominance plasticity
  • early postnatal lethality of BDNF null mice
  • heterozygous BDNF(+/-) mice develop enhanced intermale aggressiveness and hyperphagia accompanied by significant weight gain in early adulthood
  • transgenic overexpression of BDNF in mouse has a facilitatory effect on anxiety-like behavior, concomitant with increased spinogenesis in the basolateral amygdala and antidepressant effects
  • BDNF(Val66Met/Val66Met) mice exhibited increased anxiety-related behaviors in stressful settings