What is it about?

Down syndrome (DS) is the most common chromosomal survival aneuploidy. The increase in DS life expectancy heightens the risk of dementia, principally Alzheimer's disease (AD). AD risk in DS is higher, considering that this population may also develop metabolic diseases such as obesity, dyslipidemias, and diabetes mellitus. The extra genetic material that characterizes DS causes an imbalance in the genetic dosage, including over-expression of AD's key pathophysiological molecules and the gene expression regulators, the microRNAs (miRNAs). We studied their profiles in two groups of DS patients.

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Why is it important?

Two biomolecules (miRNAs), chromosome 21-encoded, (miR-155, and let-7c), are associated with cognitive impairment and dementia in adults. This research focuses on their expression dynamics and their link with clinical variables during the DS's lifespan. Overall, our results show that let-7c plays a role from the early stages of cognitive impairment in DS. While overexpression of miR-155 may be related to lipid metabolism changes.


Further studies of both miRNAs will shed light on their potential as therapeutic targets to prevent or delay DS's cognitive impairment.

Dr. Katia Avina Padilla
University of Illinois at Urbana-Champaign

Read the Original

This page is a summary of: Profiling of circulating chromosome 21‐encoded microRNAs , miR ‐155, and let‐7c, in down syndrome, Molecular Genetics & Genomic Medicine, April 2022, Wiley,
DOI: 10.1002/mgg3.1938.
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