CSTB : cystatin B
Description
The CSTB gene, encodes cystatin B, a cysteine protease inhibitor crucial for brain development and function. Cystatin B prevents the overactivation of cathepsin B, an enzyme involved in protein degradation. Mutations in CSTB can disrupt this delicate balance, leading to a range of neurological disorders. This article delves into the intricacies of the CSTB gene, its role in brain health, and the implications of its dysfunction.
Associated Diseases
- **Progressive Myoclonus Epilepsy of Unverricht-Lundborg Type (PME)**: A severe form of epilepsy characterized by myoclonus (muscle spasms), seizures, and progressive neurological deterioration.
- **Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)**: A rare, fatal neurodegenerative disorder primarily affecting children, causing progressive cognitive decline, seizures, and vision loss.
- **Other neurological disorders**: CSTB mutations have also been linked to rarer neurological conditions such as dystonia, ataxia, and dementia.
Did you know?
Cystatin B is highly expressed in the brain, particularly in neurons, highlighting its critical role in neuronal function and survival.
