首页|Artificial intelligence as a ploy to delve into the intricate relationship betwe en genetics and mitochondria in MASLD patients
Artificial intelligence as a ploy to delve into the intricate relationship betwe en genetics and mitochondria in MASLD patients
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By a News Reporter-Staff News Editor at Robotics & Machine Learning Daily News Daily News-According to news reporting based on a preprint abstract, our journalists obtained the following quote sourced from bi orxiv.org: "Background and Aims: Mitochondrial (mt-) dysfunction is a hallmark of progressi ve MASLD. MtDNA copy number (mtDNA-CN) and cell-free circulating mtDNA (ccf-mtDN A), which reflect mt-mass and mt-dysfunction, respectively, are gaining attentio n as non-invasive disease biomarkers. We previously demonstrated that PNPLA3/MBO AT7/TM6SF2 deficiency in HepG2 cells increased mt-mass, mtDNACN and ccf-mtDNA. This study furtherly explored mt-biogenesis, function and mt-biomarkers in biops ied MASLD patients from a Discovery (n=28) and a Validation (n=824) cohort, stra tified by the number of risk variants (NRV=3). We took advantage of artificial i ntelligence (AI) to develop new risk scores, predicting MASLD evolution by integ rating anthropometric and genetic data (Age, BMI, NRV) with mtbiomarkers. Metho ds: Hepatic mt-morphology and dynamics were assessed by TEM, IHC and gene expres sion. mtDNA-CN and ccf-mtDNA were measured in PBMCs and serum samples. GPT-4 was employed as AI tool to support the construction of novel risk scores for MASLD progressive forms (MASH, fibrosis and HCC). Results: In the Discovery cohort, NR V=3 patients showed the highest mt-mass and significant mtmorphological changes (i.e. membranes rupture). An elevated PGC-1, OPA1, DRP1 and PINK1, markers of m t-biogenesis, fusion and fission were found in these patients, supporting an enh anced mt-dynamics.