SERPINI1 : serpin family I member 1
Neuroserpin: A Key Player in Brain Development and Function
Description
The SERPINI1 gene encodes neuroserpin, a serine protease inhibitor (serpin) that plays a crucial role in regulating various processes in the brain. Serpins control the activity of certain proteins by blocking their enzymatic action. Neuroserpin specifically inhibits tissue plasminogen activator (tPA), an enzyme involved in cell migration, blood clotting, and inflammation.
Associated Diseases
Mutations in the SERPINI1 gene have been linked to several neurological disorders, including:
- Familial encephalopathy with neuroserpin inclusion bodies (FENIB): A progressive brain disease characterized by dementia, seizures, and movement problems.
- Dystonia-parkinsonism with diurnal fluctuation: A movement disorder featuring involuntary muscle contractions (dystonia) and parkinsonism-like symptoms that fluctuate throughout the day.
- Hereditary sensory and autonomic neuropathy type 1 (HSAN1): A peripheral neuropathy affecting the senses and autonomic nervous system.
Did you Know ?
Neuroserpin is particularly abundant in the synapses, the connections between neurons that enable communication in the brain. Studies have shown that neuroserpin levels are significantly reduced in the brains of individuals with Alzheimer‘s disease, suggesting a potential role in the development or progression of this neurodegenerative condition.
