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Category: genetics – Page 4

Gene deficiency that causes obesity also protects from heart disease, finds new study

Deficiency of the gene melanocortin 4 receptor (MC4R) is linked with obesity among adults. A recent study has found that the same deficiency also leads to surprising outcomes such as reduced risk of heart disease, lower cholesterol, and triglycerides. These results contradict the well-established correlation between obesity and cardiovascular diseases.

The researchers scanned the of 7,719 children from the Genetics of Obesity Study (GOOS) cohort. They identified 316 probands—first person in a family to draw medical attention to a —and 144 adult family members with obesity due to loss-of-function (LoF) MC4R mutations.

Even after adjusting for weight, these individuals showed better blood pressure profiles and when compared to 336,728 controls from the UK Biobank.

Advancing human leukocyte antigen-based cancer immunotherapy: from personalized to broad-spectrum strategies for genetically heterogeneous populations

Human leukocyte antigen (HLA)-based immunotherapeutics, such as tebentafusp-tebn and afamitresgene autoleucel, have expanded the treatment options for HLA-A*02-positive patients with rare solid tumors such as uveal melanoma, synovial sarcoma, and myxoid liposarcoma. Unfortunately, many patients of European, Latino/Hispanic, African, Asian, and Native American ancestry who carry non-HLA-A*02 alleles remain largely ineligible for most current HLA-based immunotherapies. This comprehensive review introduces HLA allotype-driven cancer health disparities (HACHD) as an emerging research focus, and examines how past and current HLA-targeted immunotherapeutic strategies may have inadvertently contributed to cancer health disparities. We discuss several preclinical and clinical strategies, including the incorporation of artificial intelligence (AI), to address HACHD.

How happy do we need to be to have lower chronic disease mortality risk?

Heart disease, cancer, asthma, and diabetes: All are chronic or non-communicable diseases (NCD), which accounted for about 75% of non-pandemic related deaths in 2021. They may result from genetic, environmental, and behavioral factors, or a combination thereof. But can other factors also influence disease risk?

Now, a new Frontiers in Medicine study has investigated the relationship between and health to find out if happier always means healthier and to determine if happiness and co-occurring health benefits are linear or follow a specific pattern.

“We show that subjective well-being, or happiness, appears to function as a population health asset only once a minimum threshold of approximately 2.7 on the Life Ladder scale is surpassed,” said first author Prof Iulia Iuga, a researcher at 1 Decembrie 1918 University of Alba Iulia. “Above this tipping point, increased happiness is associated with a decrease in NCD mortality.”

How a human ‘jumping gene’ targets structured DNA to reshape the genome

Long interspersed nuclear element-1 (LINE-1 or L1) is the only active, self-copying genetic element in the human genome—comprising about 17% of the genome. It is commonly called a “jumping gene” or “retrotransposon” because it can “retrotranspose” (move) from one genomic location to another.

Researchers from the Institute of Biophysics of the Chinese Academy of Sciences have now unveiled the molecular mechanisms that underlie L1’s retrotransposition and integration into genomic DNA. Their study was published in Science on October 9.

L1 is the only autonomously active retrotransposon in the and serves as the primary vehicle for the mobilization of most other retrotransposons. Its retrotransposition process is mediated by the reverse transcriptase ORF2p through a mechanism known as target-primed reverse transcription (TPRT). Until now, the manner in which ORF2p recognizes DNA targets and mediates integration had remained unclear.

Christian Maugee — PhD Candidate, University Of Florida — From Patient To Genetics Research Pioneer

From patient to genetics research pioneer — christian maugee — phd candidate, university of florida.

Christian Maugee is a PhD Candidate at the University of Florida, in Genetics and Genomics (http://www.vulpelab.net/graduate-and-undergrad-students.html where his research explores how gene expression differs in the hearts of individuals with Friedrich’s Ataxia (FA), a rare, progressive neurodegenerative disease. His work could lead to new insights into the cardiac complications that can be associated with FA and how to potential treat them better.

Christian’s dissertation work is focused on identifying gene modulators of the transcriptional phenotype of FA in human induced pluripotent stem cells differentiated into cardiomyocytes (hPSC-CMs). He accomplishes this through use of a novel method: Perturb-seq — a CRISPR screen coupled with single cell RNA sequencing (scRNA-seq) readout.

Christian is driven by much more than academic curiosity, as he brings a unique and deeply human perspective to his work as someone living with FA. He doesn’t just study the challenges faced by those with disabilities; he lives them. His work is not only informed by data and theory, but by resilience, authenticity, and a commitment to making research more inclusive and impactful.

In the lab, Christian loves mentoring, and outside of the lab he loves fundraising and raising awareness for FA, mainly through FARA (https://www.curefa.org/) and MDA (https://www.mda.org/disease/friedreic…).

Continue reading “Christian Maugee — PhD Candidate, University Of Florida — From Patient To Genetics Research Pioneer” | >

MRI age clocks reveal how each organ ages differently and predict who develops disease or lives longer

Researchers developed seven MRI-based biological age clocks across major organs using UK Biobank imaging, linking each to proteins, metabolites, genetics, disease risks, mortality, and cognitive decline. These organ-specific age gaps reveal how uneven aging shapes vulnerability to conditions such as diabetes, hypertension, and dementia, opening new paths for precision prevention and clinical trial stratification

MIT’s new precision gene editing tool could transform medicine

MIT scientists have found a way to make gene editing far safer and more accurate — a breakthrough that could reshape how we treat hundreds of genetic diseases. By fine-tuning the tiny molecular “tools” that rewrite DNA, they’ve created a new system that makes 60 times fewer mistakes than before.

Disease-associated radial glia-like cells with epigenetically dysregulated interferon response in MS

Li et al. report that Edwardsiella piscicida employs HigA, an anti-toxin protein, to facilitate the diversion of tryptophan metabolism to the kynurenine pathway, rather than the serotonin pathway, by directly activating IDO1 in a T6SS-dependent manner as a cross-kingdom effector. The serotonin-level fluctuation modulates host intestinal histological damage and bacterial infection.

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