FAM228B
Title: FAM228B: An Emerging Player in Neurodegenerative Diseases
Description:
FAM228B, also known as chromosome 22 open reading frame 28B, is a protein that plays a crucial role in various cellular processes, including protein degradation, mitochondrial function, and DNA repair. Mutations in the FAM228B gene have been linked to several neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and Parkinson‘s disease. This blog post will delve into the functions, associated diseases, and latest research on FAM228B.
Associated Diseases:
Amyotrophic Lateral Sclerosis (ALS):
ALS is a devastating neurodegenerative disease characterized by the progressive loss of motor neurons, leading to muscle weakness and paralysis. Mutations in FAM228B have been identified as a rare cause of familial ALS. Studies suggest that FAM228B mutations disrupt protein degradation pathways, leading to the accumulation of toxic protein aggregates in motor neurons.
Frontotemporal Dementia (FTD):
FTD is a group of progressive neurological disorders that primarily affect the frontal and temporal lobes of the brain, leading to changes in behavior, personality, and language. Mutations in FAM228B have been linked to a rare form of FTD known as familial FTD with motor neuron disease. Similar to ALS, FAM228B mutations in FTD are thought to impair protein degradation and contribute to neuronal dysfunction.
Parkinson‘s Disease:
Parkinson‘s disease is a neurodegenerative disorder that affects movement, causing tremors, rigidity, and impaired balance. While FAM228B mutations are not considered a common cause of Parkinson‘s, recent studies have suggested a potential link between FAM228B dysfunction and the development of Lewy body disease, a pathology associated with Parkinson‘s.
Did you Know ?
Mutations in the FAM228B gene account for approximately 1% of familial ALS cases, highlighting its importance in the pathogenesis of this debilitating disease.
