KIAA1161
Kiaa1161: A Gene Linked to Neurodegenerative Disorders
Description
Kiaa1161 is a gene that encodes a protein known as Kiaa1161p. This protein plays a critical role in the development and maintenance of the nervous system. It is involved in various cellular processes, including:
- Axonal growth and guidance: Kiaa1161p helps guide growing axons, the long projections that extend from neurons, to their target destinations.
- Synapse formation: Kiaa1161p contributes to the formation of synapses, the connections between neurons that allow them to communicate.
- Myelination: Kiaa1161p regulates the production of myelin, an insulating layer surrounding axons that speeds up electrical signals.
Associated Diseases
Mutations in the kiaa1161 gene have been linked to several neurodegenerative disorders, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a fatal disease that affects motor neurons, the cells responsible for muscle movement. Mutations in kiaa1161 have been found in some ALS patients.
- Alzheimer's disease (AD): AD is a progressive brain disorder that impairs memory and cognitive function. Kiaa1161p expression is reduced in the brains of AD patients.
- Parkinson's disease (PD): PD is a movement disorder characterized by tremors, rigidity, and difficulty walking. Mutations in kiaa1161 have been associated with an increased risk of developing PD.
- Multiple sclerosis (MS): MS is an autoimmune disease that affects the central nervous system. Kiaa1161p is involved in the regulation of immune responses, and alterations in its expression may contribute to MS development.
Did you Know ?
In a study of ALS patients, mutations in kiaa1161 were found in approximately 1-2% of cases. While this is a relatively small percentage, it suggests that kiaa1161 plays a significant role in the development of ALS.
