Key result
Heterozygous AD-associated ACE mutations Y215C and G325R were associated with plasma ACE levels at approximately 50% of controls, indicating they are likely transport-deficient.
Why the study?
Prior analysis showing 400+ damaging missense ACE mutations prompted the hypothesis that carriers of heterozygous loss-of-function ACE mutations may be at risk for late-onset Alzheimer's disease.
Do heterozygous ACE mutations associated with Alzheimer's disease affect blood ACE levels and phenotype compared to controls?
Observational (n=74)
Do heterozygous ACE mutations associated with Alzheimer's disease affect blood ACE levels and phenotype compared to controls?
Certain heterozygous ACE mutations associated with Alzheimer's disease significantly reduce plasma ACE levels, suggesting a potential mechanism for increased AD risk.
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Heterozygous ACE LoF mutations lower plasma ACE levels; hypothesis-generating for late-onset AD risk and requires larger prospective studies.
Kryukova et al. (2024) conducted an observational in Alzheimer's disease risk associated with ACE mutations (n=74). Heterozygous ACE mutations (e.g., Y215C, G325R) vs. Controls without mutations was evaluated on Blood ACE levels. Heterozygous AD-associated ACE mutations Y215C and G325R were associated with plasma ACE levels at approximately 50% of controls, indicating they are likely transport-deficient.
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