FAM47E
Title: FAM47E: A Key Player in Neurodegenerative Disorders
Description:
FAM47E is a protein that plays a crucial role in maintaining the health of neurons. Mutations in the FAM47E gene have been linked to a number of neurodegenerative diseases, including Parkinson‘s disease, Alzheimer‘s disease, and amyotrophic lateral sclerosis (ALS).
Associated Diseases:
- Parkinson‘s Disease: Mutations in FAM47E are strongly associated with an increased risk of developing Parkinson‘s disease. These mutations lead to the accumulation of misfolded proteins in neurons, causing cellular damage and eventual loss of motor function.
- Alzheimer‘s Disease: FAM47E is involved in regulating the clearance of beta-amyloid plaques, which are implicated in the development of Alzheimer‘s disease. Mutations in FAM47E disrupt this process, leading to the accumulation of plaques and cognitive decline.
- Amyotrophic Lateral Sclerosis (ALS): Mutations in FAM47E have been identified in some individuals with ALS. These mutations impair the function of motor neurons, leading to progressive muscle weakness and paralysis.
Did you Know ?
- Studies have shown that individuals with certain FAM47E mutations have a 20-fold increased risk of developing Parkinson‘s disease.
