Genetics
CPD gene mutations tied to congenital hearing loss; lab tests point to arginine and sildenafil as potential interventions
Heather Vogel Larawang ginawa ng AI Fact checked
An international team reports that rare mutations in CPD (carboxypeptidase D) cause a congenital, sensorineural form of hearing loss by disrupting arginine–nitric oxide signaling in inner‑ear hair cells. In models, arginine supplementation or sildenafil partially reversed disease‑related defects, highlighting a pathway for future therapies.
Common IVF test misses genetic abnormalities in embryos
A study reveals that preimplantation genetic testing for aneuploidy, a standard IVF procedure, cannot detect certain genetic changes that occur in embryos shortly before implantation. Researchers observed these abnormalities in real time using advanced microscopy on thawed human embryos. While the findings highlight limitations in embryo screening, their impact on pregnancy success remains unclear.
Genes influencing cannabis use identified in genome study
Researchers from UC San Diego and 23andMe have discovered genetic links to cannabis use behaviors, connecting them to over 100 health traits. The study, published on October 13, 2025, in Molecular Psychiatry, highlights two key genes and could inform prevention of cannabis use disorder. It analyzed data from nearly 132,000 participants to explore early-stage risks.
Evolution of human intelligence linked to mental illness vulnerability
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Researchers have traced genetic variants in the human genome to reveal that advances in cognitive abilities around 500,000 years ago were soon followed by mutations increasing susceptibility to psychiatric disorders. This suggests a trade-off in brain evolution. The study, published in Cerebral Cortex, analyzed 33,000 genetic variants to build an evolutionary timeline of brain-related traits.
MIT scientists uncover persistent genome loops during cell division
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Genetic study links lower cholesterol to reduced dementia risk
Heather Vogel Larawang ginawa ng AI Fact checked
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))
Study shows harmful sperm mutations rise with men's age
New research reveals that genetic mutations in men's sperm, which can lead to diseases in offspring, increase with age due to evolutionary selection within the testes. Scientists used advanced sequencing to analyze sperm from 81 men aged 24 to 75, finding that harmful mutations affect 2 percent of sperm in early 30s men but rise to 4.5 percent in 70-year-olds. The findings, published October 8 in Nature, highlight risks for future generations.
Genetic change protected early humans from lead's evolutionary impact
Researchers have uncovered evidence that ancient hominids were exposed to lead as early as two million years ago, potentially influencing brain evolution. Modern humans possess a unique genetic variant in the NOVA1 gene that shielded them from lead's toxic effects on language development. This discovery, published on October 15, 2025, suggests it gave Homo sapiens an advantage over Neanderthals.
Genetic mismatch may have hindered Neanderthal-human hybrids
A new study suggests that interbreeding between Neanderthals and Homo sapiens created a genetic incompatibility that increased pregnancy failure risks in hybrid mothers, potentially contributing to Neanderthals' extinction. This mismatch involved differences in the PIEZO1 gene affecting oxygen transport in blood. The finding could explain the absence of Neanderthal mitochondrial DNA in modern humans.
Study overturns idea that light drinking protects brain health
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A large-scale study combining observational and genetic data has found that any alcohol consumption increases dementia risk, with no safe level identified. Published in BMJ Evidence Based Medicine, the research challenges previous beliefs about moderate drinking's benefits. Dementia risk rises linearly with alcohol intake, according to the analysis.