SYNM
The Enigma of the SYNM Gene: Unraveling the Code of Neurological Disorders
Description
The SYNM gene, a crucial component of the synaptic machinery, holds the key to understanding the complexities of neurological disorders, including autism, Parkinson‘s disease, and Alzheimer‘s disease. This gene encodes a protein called synaptogyrin, which plays a vital role in synaptic vesicle exocytosis, the process by which neurotransmitters are released into the synaptic cleft. Synaptogyrin acts as a scaffold protein, bridging the gap between synaptic vesicles and the plasma membrane, ensuring the efficient release of neurotransmitters.
Associated Diseases
Mutations or dysregulation of the SYNM gene have been linked to a diverse range of neurological disorders, highlighting its critical role in brain function. These disorders include:
- Autism Spectrum Disorder (ASD): Studies have shown that variations in the SYNM gene are associated with increased risk of developing ASD, particularly among individuals with intellectual disability.
- Parkinson‘s Disease (PD): Mutations in the SYNM gene have been identified in familial cases of PD, suggesting a genetic link to this neurodegenerative disorder.
- Alzheimer‘s Disease (AD): Reduced expression of synaptogyrin has been observed in AD patients, implicating the SYNM gene in the progression of cognitive decline associated with this disease.
Did you Know ?
Recent research has estimated that approximately 1 in 400 individuals carry a mutation in the SYNM gene, emphasizing the prevalence of this genetic variant in the global population. However, not all carriers will develop a neurological disorder, suggesting that environmental and other genetic factors also play a role in disease manifestation.
