ABHD16B
ABHD16B: A Gene Linked to Neuronal Health and Disease
Description:
ABHD16B (Abhydrolase Domain Containing 16B) is a gene that encodes an enzyme involved in lipid signaling pathways in the brain. It plays a crucial role in regulating the levels of 2-arachidonoylglycerol (2-AG), an endocannabinoid that affects various neurophysiological processes.
Associated Diseases:
Mutations in the ABHD16B gene have been linked to several neurological and psychiatric disorders, including:
- Schizophrenia: ABHD16B variants have been associated with an increased risk of schizophrenia. Studies suggest that alterations in endocannabinoid signaling, mediated by ABHD16B dysfunction, may contribute to the cognitive and behavioral symptoms of the disorder.
- Autism Spectrum Disorder (ASD): Mutations in ABHD16B have been identified in individuals with ASD. These mutations impair the enzyme‘s ability to regulate 2-AG levels, leading to disruptions in neuronal signaling and potentially contributing to the core symptoms of ASD.
- Epilepsy: ABHD16B deficiency has been associated with the development of epilepsy in animal models. Reduced levels of 2-AG, due to ABHD16B mutations, may alter neuronal excitability and trigger seizures.
- Neurodegenerative Disorders: Studies have explored the role of ABHD16B in neurodegenerative diseases such as Alzheimer‘s disease. Alterations in endocannabinoid signaling, modulated by ABHD16B, may contribute to neuroinflammation and neuronal damage in these conditions.
Did you Know ?
A large-scale genetic study found that a specific variant in the ABHD16B gene was present in approximately 1 out of every 100 individuals in the general population. However, the prevalence of this variant was significantly higher in individuals with schizophrenia, with nearly 1 in 5 individuals carrying the risk allele.
