A month late but congratulations to Jamie for her first first-author publication! She first presented this work at ASH 2022 and won an abstract achievement award, then went on to win the Science Dean's Prize for Undergraduate research! So proud of our team!
Here's the lay summary:
The Blm protein is part of a family of RecQ helicase enzymes. Although a different member of the RecQ helicase family, WRN, causes a premature aging syndrome, Bloom Syndrome does not appear to have many of the typical features of premature aging, such as cataracts and early-onset graying. Despite this, cumulative DNA damage as seen in Bloom Syndrome, is known to contribute to aging. Epigenetic age uses DNA methylation levels to estimate biological age and has been shown to be a better predictor of health and cancer, compared to actual chronological age. We measured DNA methylation levels in families with Bloom Syndrome and in a mouse model of Bloom Syndrome. We discovered that patients and mice with Bloom Syndrome have accelerated epigenetic age, suggesting that mutations in BLM do indeed lead to premature aging. Future studies are needed to determine the significance of epigenetic age and how it may relate to health and cancer in Bloom Syndrome. This may serve as a potential biomarker for early-detection and even open opportunities for targeted therapies.
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