NPM2
Title: npm2: A Novel Gene with Implications for Neurological Disorders
Description:
Npm2 (nucleophosmin 2) is a gene that plays a crucial role in various cellular processes, including cell growth, differentiation, and apoptosis. Mutations in npm2 have been linked to a range of neurological disorders, including acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and pulmonary alveolar proteinosis (PAP).
Associated Diseases:
Acute Myeloid Leukemia (AML):
- npm2 mutations are present in approximately 30% of AML cases, particularly the NPM1-mutant subtype.
- These mutations lead to aberrant NPM protein localization, disrupting its normal functions and contributing to leukemic transformation.
Myelodysplastic Syndromes (MDS):
- npm2 mutations occur in approximately 10% of MDS cases.
- They are associated with lower-risk MDS subtypes and a better prognosis compared to NPM1-mutant AML.
Pulmonary Alveolar Proteinosis (PAP):
- Mutations in the GATA2 gene, which encodes a transcription factor that regulates npm2 expression, are responsible for approximately 90% of PAP cases.
- Reduced npm2 levels in PAP result in impaired surfactant production, leading to the accumulation of protein-rich fluid in the lungs.
Did you Know ?
- A study of 1,000 AML patients found that npm2 mutations were more common in younger patients and predicted a significantly better overall survival compared to NPM1-mutant AML.
