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Genetics Home Reference: your guide to understanding genetic conditions
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BDNF

Reviewed March 2013

What is the official name of the BDNF gene?

The official name of this gene is “brain-derived neurotrophic factor.”

BDNF is the gene's official symbol. The BDNF gene is also known by other names, listed below.

What is the normal function of the BDNF gene?

The BDNF gene provides instructions for making a protein found in the brain and spinal cord called brain-derived neurotrophic factor. This protein promotes the survival of nerve cells (neurons) by playing a role in the growth, maturation (differentiation), and maintenance of these cells. In the brain, the BDNF protein is active at the connections between nerve cells (synapses), where cell-to-cell communication occurs. The synapses can change and adapt over time in response to experience, a characteristic called synaptic plasticity. The BDNF protein helps regulate synaptic plasticity, which is important for learning and memory.

The BDNF protein is found in regions of the brain that control eating, drinking, and body weight; the protein likely contributes to the management of these functions.

Does the BDNF gene share characteristics with other genes?

The BDNF gene belongs to a family of genes called endogenous ligands (endogenous ligands).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the BDNF gene related to health conditions?

Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome - associated with the BDNF gene

The BDNF gene is located in a region of chromosome 11 that is often deleted in a condition known as WAGRO syndrome. This condition is a variant of Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome, more commonly known by the acronym WAGR syndrome. WAGRO syndrome also includes obesity. The deletions that cause WAGRO syndrome remove many genes from one copy of chromosome 11, including part or all of the BDNF gene. The loss of this gene is responsible for weight gain that begins in childhood in people with WAGRO syndrome.

People with WAGRO syndrome may be at greater risk of neurological problems such as intellectual disability and a developmental disorder called autism that affects communication and social interaction than those with WAGR syndrome. It is unclear whether this increased risk is due to the loss of the BDNF gene or other nearby genes.

other disorders - associated with the BDNF gene

Certain common genetic variations (polymorphisms) in the BDNF gene have been associated with an increased risk of developing psychiatric disorders such as bipolar disorder, schizophrenia, anxiety, and eating disorders.

Most studies have focused on the effects of a particular polymorphism in the BDNF gene. This variation alters a single protein building block (amino acid) in the protein, replacing the amino acid valine with the amino acid methionine at position 66 (written at Val66Met or V66M). This change impairs the protein's ability to function. Many studies report an association between the Val66Met polymorphism and psychiatric disorders; however, some studies have not supported these findings. It is unclear how changes in the BDNF gene are related to these disorders. A large number of genetic and environmental factors, most of which remain unknown, likely determine the risk of developing these complex conditions.

Where is the BDNF gene located?

Cytogenetic Location: 11p13

Molecular Location on chromosome 11: base pairs 27,654,892 to 27,722,057

The BDNF gene is located on the short (p) arm of chromosome 11 at position 13.

The BDNF gene is located on the short (p) arm of chromosome 11 at position 13.

More precisely, the BDNF gene is located from base pair 27,654,892 to base pair 27,722,057 on chromosome 11.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about BDNF?

You and your healthcare professional may find the following resources about BDNF helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the BDNF gene or gene products?

  • abrineurin
  • ANON2
  • BDNF_HUMAN
  • BULN2
  • neurotrophin

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding BDNF?

amino acid ; anxiety ; autism ; bipolar disorder ; cell ; chromosome ; differentiation ; disability ; gene ; mental retardation ; methionine ; neurological ; plasticity ; polymorphism ; protein ; schizophrenia ; syndrome ; tumor ; valine ; Wilms tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • OMIM: BRAIN-DERIVED NEUROTROPHIC FACTOR (http://omim.org/entry/113505)
  • Han JC, Liu QR, Jones M, Levinn RL, Menzie CM, Jefferson-George KS, Adler-Wailes DC, Sanford EL, Lacbawan FL, Uhl GR, Rennert OM, Yanovski JA. Brain-derived neurotrophic factor and obesity in the WAGR syndrome. N Engl J Med. 2008 Aug 28;359(9):918-27. doi: 10.1056/NEJMoa0801119. Erratum in: N Engl J Med. 2008 Sep 25;359(13):1414. (http://www.ncbi.nlm.nih.gov/pubmed/18753648?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/627)
  • Rodríguez-López R, Pérez JM, Balsera AM, Rodríguez GG, Moreno TH, García de Cáceres M, Serrano MG, Freijo FC, Ruiz JR, Angueira FB, Pérez PM, Estévez MN, Gómez EG. The modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome. Gene. 2013 Mar 10;516(2):285-90. doi: 10.1016/j.gene.2012.11.073. Epub 2012 Dec 21. (http://www.ncbi.nlm.nih.gov/pubmed/23266638?dopt=Abstract)
  • Sears C, Markie D, Olds R, Fitches A. Evidence of associations between bipolar disorder and the brain-derived neurotrophic factor (BDNF) gene. Bipolar Disord. 2011 Nov-Dec;13(7-8):630-7. doi: 10.1111/j.1399-5618.2011.00955.x. (http://www.ncbi.nlm.nih.gov/pubmed/22085476?dopt=Abstract)
  • Shinawi M, Sahoo T, Maranda B, Skinner SA, Skinner C, Chinault C, Zascavage R, Peters SU, Patel A, Stevenson RE, Beaudet AL. 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. Am J Med Genet A. 2011 Jun;155A(6):1272-80. doi: 10.1002/ajmg.a.33878. Epub 2011 May 12. (http://www.ncbi.nlm.nih.gov/pubmed/21567907?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2013
Published: April 13, 2015