Cholesterol
Mayo Clinic study finds major gaps in genetic screening for inherited high cholesterol
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A large Mayo Clinic study reports that current guidelines fail to detect nearly 90% of people with familial hypercholesterolemia, a common inherited cause of dangerously high cholesterol and early heart disease. Researchers analyzed exome data from more than 84,000 participants and found that most would not have been selected for standard genetic testing. Expanding routine DNA screening, they say, could help identify at-risk individuals earlier and prevent severe cardiovascular outcomes.
Researchers from the University of Barcelona and the University of Oregon report that short DNA molecules known as polypurine reverse Hoogsteen hairpins (PPRHs) suppressed the PCSK9 gene and reduced blood cholesterol in a mouse model. In transgenic mice carrying the human PCSK9 gene, a single injection of one candidate (HpE12) cut plasma PCSK9 by 50% and total cholesterol by 47% three days later, according to findings published in Biochemical Pharmacology.
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Researchers from Mass General Brigham found that the cholesterol drug evolocumab cuts the risk of first-time major cardiovascular events by 31% in high-risk patients with diabetes who lack diagnosed atherosclerosis. The results, from a subgroup analysis of the VESALIUS-CV trial, were presented at the American College of Cardiology's Annual Scientific Session and published in JAMA. Patients on the drug saw LDL cholesterol levels drop significantly alongside standard treatments.
A large-scale genetic analysis of about 1.09 million people suggests that lifelong, genetically lower cholesterol—specifically non‑HDL cholesterol—is associated with substantially reduced dementia risk. Using Mendelian randomization to emulate the effects of cholesterol‑lowering drug targets such as those for statins (HMGCR) and ezetimibe (NPC1L1), the study found up to an approximately 80% lower risk per 1 mmol/L reduction for some targets. ([research-information.bris.ac.uk](https://research-information.bris.ac.uk/en/publications/cholesterollowering-drug-targets-reduce-risk-of-dementia-mendelia?utm_source=openai))
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Researchers from the University of Barcelona and the University of Oregon have developed a DNA-based treatment that targets the PCSK9 gene to lower cholesterol levels without the side effects of statins. Using polypurine hairpins, the therapy increases cholesterol uptake by cells and reduces artery-clogging lipids in animal models. The findings, published in Biochemical Pharmacology, suggest a safer alternative for preventing cardiovascular diseases.