SYNE1 : spectrin repeat containing nuclear envelope protein 1
SYNE1 Gene: Essential for Brain Function and Movement Coordination
Description
The SYNE1 gene encodes a protein called Syne-1, which is present in various tissues throughout the body. However, it is particularly crucial for proper brain function. Syne-1 plays a vital role in maintaining the cerebellum, a brain region responsible for coordinating movement.
Function in the Cerebellum
Syne-1 is expressed in Purkinje cells, which are specialized nerve cells located in the cerebellum. These cells are involved in chemical signaling between neurons. Syne-1 is believed to anchor the Purkinje cell membrane to the actin cytoskeleton, a network of fibers that provides structural support to the cell. This attachment is essential for the proper functioning of these cells.
Associated Diseases
Mutations in the SYNE1 gene have been linked to several neurological disorders. These include:
- Joubert syndrome: A rare genetic condition characterized by developmental delays, eye movement abnormalities, and breathing problems.
- Cerebellar ataxia with mental retardation (CAMR): A disorder that affects the cerebellum, leading to difficulties with movement, coordination, and learning.
- Pontocerebellar hypoplasia (PCH): A life-limiting condition that affects the development of the brain, particularly the cerebellum and pons.
Did you Know ?
Approximately 1 in 80,000 people worldwide are affected by Joubert syndrome, making it a relatively rare condition. However, the prevalence of SYNE1-related disorders is likely underestimated due to challenges in diagnosis.
