Faculty Mentor

Dr. Elaine Vanterpool

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Description

The human genome is largely responsible for each individual’s unique physical and physiological development. It contains thousands of genes with multiple alleles that code for proteins with various functions. Mutations in these genes have the potential to lead to the development of human diseases and disorders. Therefore, properly analyzing mutated genes is essential to understanding their potential pathogenicity in various diseases and disorders. It may also provide a basis for the development of new therapies. The DAGLA gene encodes a protein called diacylglycerol lipase alpha. This enzyme is involved in the biosynthesis of 2-arachidonoyl-glycerol, a key player in the endocannabinoid system. The endocannabinoid system has been associated with neuropsychiatric diseases. This protein has been shown to play a major role in the development of the central nervous system and synaptic plasticity. Previous studies have associated rare variants of the DAGLA gene with seizures and neurodevelopmental disorders, including autism and abnormal brain morphology. It has also been associated with alcoholism and is possibly influenced by stress. This gene is primarily expressed between school age and young adulthood. ClinVar was used to identify the DAGLA gene as one associated with attention deficit hyperactivity disorder (ADHD). This disorder is characterized by difficulty focusing and staying on task, trouble with organization and memory, impulsivity, and hyperactivity, including restlessness or excessive talking. Individuals with this disorder may also struggle to maintain healthy relationships, regulate emotions, or deal with responsibilities. The pathogenicity of the DAGLA gene for this disorder has yet to be determined

Publication Date

4-1-2025

City

Huntsville

Disciplines

Biology

Comments

Zahra Dulan, Student Researcher

An Analysis of DAGLA Variants Associated with ADHD

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Biology Commons

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