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Milestone 1.L

AD Related Dementias – Specific

Genetic, epigenetic, and environmental characterization of LBD.


Success Criteria

  • Identify novel common and rare genetic variants, epigenetic and other genomic changes, gene expression changes, and environmental influences on genomic and genetic factors that impact the risk for and clinical features of LBD.

Summary of Key Accomplishments

Recently, NIA/NINDS intramural staff led an international effort to sequence the genomes from 2591 individuals with LBD, and identified two new sites in the genome that are associated with risk for LBD. They also looked at risk genes that LBD shares with Parkinson's and AD and found differences between these disorders in how the shared risk genes were expressed. Another group of researchers looked at the DNA found in blood from individuals with the two LBD subtypes (Dementia with Lewy Bodies (DLB) and Parkinson's Disease Dementia (PDD)) and found six locations where there were differences in how the DNA was externally modified. These changes were associated with worse cognitive symptoms in DLB and more REM behavior disorders in PDD, respectively.

This information is current as of July 2022.


Research Implementation Area
AD Related Dementias - Specific
Timeline
2016–2023
Status
In Progress

Accomplishments/Implementation Activities

Funding Initiatives

Research Programs and Resources

Relevant Recommendations

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