| First Author | Yan T | Year | 2020 |
| Journal | Nat Commun | Volume | 11 |
| Issue | 1 | Pages | 411 |
| PubMed ID | 31964863 | Mgi Jnum | J:301698 |
| Mgi Id | MGI:6388333 | Doi | 10.1038/s41467-019-13962-0 |
| Citation | Yan T, et al. (2020) FAM222A encodes a protein which accumulates in plaques in Alzheimer's disease. Nat Commun 11(1):411 |
| abstractText | Alzheimer''s disease (AD) is characterized by amyloid plaques and progressive cerebral atrophy. Here, we report FAM222A as a putative brain atrophy susceptibility gene. Our cross-phenotype association analysis of imaging genetics indicates a potential link between FAM222A and AD-related regional brain atrophy. The protein encoded by FAM222A is predominantly expressed in the CNS and is increased in brains of patients with AD and in an AD mouse model. It accumulates within amyloid deposits, physically interacts with amyloid-beta (Abeta) via its N-terminal Abeta binding domain, and facilitates Abeta aggregation. Intracerebroventricular infusion or forced expression of this protein exacerbates neuroinflammation and cognitive dysfunction in an AD mouse model whereas ablation of this protein suppresses the formation of amyloid deposits, neuroinflammation and cognitive deficits in the AD mouse model. Our data support the pathological relevance of protein encoded by FAM222A in AD. |
