The human BDNF gene: peripheral gene expression and protein levels as biomarkers for psychiatric disorders

Transl Psychiatry. 2016 Nov 22;6(11):e958. doi: 10.1038/tp.2016.214.


Brain-derived neurotrophic factor (BDNF) regulates the survival and growth of neurons, and influences synaptic efficiency and plasticity. The human BDNF gene consists of 11 exons, and distinct BDNF transcripts are produced through the use of alternative promoters and splicing events. The majority of the BDNF transcripts can be detected not only in the brain but also in the blood cells, although no study has yet investigated the differential expression of BDNF transcripts at the peripheral level. This review provides a description of the human BDNF gene structure as well as a summary of clinical and preclinical evidence supporting the role of BDNF in the pathogenesis of psychiatric disorders. We will discuss several mechanisms as possibly underlying BDNF modulation, including epigenetic mechanisms. We will also discuss the potential use of peripheral BDNF as a biomarker for psychiatric disorders, focusing on the factors that can influence BDNF gene expression and protein levels. Within this context, we have also characterized, for we believe the first time, the expression of BDNF transcripts in the blood, with the aim to provide novel insights into the molecular mechanisms and signaling that may regulate peripheral BDNF gene expression levels.

Publication types

  • Review

MeSH terms

  • Animals
  • Brain / metabolism
  • Epigenesis, Genetic / genetics
  • Gene Expression Regulation / genetics*
  • Genetic Markers / genetics
  • Humans
  • Mental Disorders / diagnosis
  • Mental Disorders / genetics*
  • Reference Values
  • Transcription, Genetic


  • Genetic Markers