BDNF gene
The BDNF gene provides instructions for making a protein that promotes the survival, growth, and maintenance of nerve cells in the brain and spinal cord.
Normal Function
The BDNF gene provides instructions for making a protein called brain-derived neurotrophic factor. This protein is active at the connections between nerve cells (synapses), where it helps regulate synaptic plasticity—the ability of synapses to change and adapt in response to experience, which is vital for learning and memory. The protein is also found in regions of the brain that control eating, drinking, and body weight.
Health Conditions Related to Genetic Changes
WAGRO syndrome
WAGRO syndrome is a variant of WAGR syndrome, a disorder named for its main features: Wilms tumor (a kidney cancer), aniridia (an eye problem), genitourinary anomalies, and intellectual disability. WAGRO syndrome also includes obesity.
- The BDNF gene is located in a region of chromosome 11 that is often deleted in WAGRO syndrome.
- The loss of the BDNF gene is responsible for weight gain that begins in childhood.
- Individuals with WAGRO syndrome may have an increased risk of neurological problems, such as autism spectrum disorder and intellectual disability, compared to those with WAGR syndrome.
Other disorders
Genetic variations (polymorphisms) in the BDNF gene have been associated with an increased risk of psychiatric disorders, including:
- Bipolar disorder
- Anxiety
- Eating disorders
Most research has focused on the Val66Met (or V66M) polymorphism, where the amino acid valine is replaced by methionine at position 66. This change impairs the protein's ability to function, though it remains unclear exactly how these genetic changes relate to the development of these complex psychiatric conditions.