LRRC48
LRRK48: A Key Player in Neurological Disorders
Description
Leucine-rich repeat kinase 2 (LRRK48) is a protein that plays a crucial role in various cellular functions, including autophagy, immune response, and neuronal development. Mutations in the LRRK48 gene have been linked to a spectrum of neurological disorders, providing insights into its significance in brain health.
Associated Diseases
Parkinson's Disease (PD)
Mutations in LRRK48 are the most common genetic cause of autosomal-dominant PD, accounting for approximately 5-10% of cases. These mutations lead to an increased activity of the kinase domain of LRRK48, which is believed to contribute to neuronal degeneration.
Inflammatory Bowel Disease (IBD)
Variants in LRRK48 have also been associated with an increased risk of IBD, particularly Crohn's disease. These variants may affect the immune response and contribute to chronic inflammation in the gastrointestinal tract.
Multiple Sclerosis (MS)
Recent research suggests that LRRK48 might play a role in MS. Studies have found that individuals with MS have altered levels of LRRK48 in their immune cells, potentially affecting disease progression and response to treatment.
Did you Know ?
According to a study published in Neurology, approximately 20% of individuals with PD who have a family history of the condition carry a mutation in the LRRK48 gene.
