Post-translational modification (PTM) is a vital biological process significantly impacting protein structure and function. It involves adding functional groups to the main and side chains during and after protein synthesis, thereby modifying their structure and function. PTMs are essential in shaping proteins into their final, functional, and three-dimensional forms. While numerous PTMs are still under active investigation and exploration. Herewith, we briefly overview some of the most prevalent PTMs, elucidate their associated functions, and establish connections between PTMs and a diverse range of diseases. Notably, we elucidate the profound influence of PTMs on neurodegenerative diseases and cancer, and provide a deep understanding of their many effects. Lastly, it considers a concise overview of PTM computational methods and databases, shedding light on the cutting-edge techniques and resources used to analyze and explore post-translational modifications. Трансляцийн дараах өөрчлөлтийн молекул механизм ба түүний зарим өвчлөлд үзүүлэх нөлөө Хураангуй. Трансляцийн дараах өөрчлөлт (ТДӨ) нь уургийн нийлэгжлийн үед, эсвэл нийлэгжлийн дараа уургийн гол болон хажуугийн гинжинд функциональ бүлэг нэмэх замаар уургийн бүтэц болон үйл ажиллагаанд нөлөөлдөг биологийн чухал үйл ажиллагааны нэг юм. Маш олон тооны ТДӨ-үүд судлагдсаар байгаа бөгөөд энэхүү тойм өгүүлэлд бид хамгийн түгээмэл арван ТДӨ-үүд болон тэдгээрийн үйл ажиллагааны талаар авч үзэв. Үүнээс гадна ТДӨ нь төрөл бүрийн өвчин, эмгэгтэй холбоотой байдгаас түгээмэл тохиолддог тархи, мэдрэлийн эмгэгүүд болон хавдрын биологийн үйл ажиллагаанд ТДӨ хэрхэн нөлөөлж байгаа талаар, түүнчлэн ТДӨ-ийн судалгааны аргууд болон мэдээллийн сангийн тухай тоймлон танилцуулав.Түлхүүр үгс: уургийн өөрчлөлт, уураг-уургийн харилцан үйлчлэл, ТДӨ-ийн мэдээллийн сан

Background/Objectives: Advanced maternal age (≥35 years) significantly increases the risk of fetal chromosomal abnormalities, particularly trisomies 21, 18, and 13. Non-invasive prenatal testing (NIPT) based on cell-free fetal DNA (cffDNA) in maternal plasma has substantially improved the accuracy and safety of prenatal screening. Methods: We previously developed and clinically validated a multiplex droplet digital PCR (ddPCR)-based NIPT assay for detecting fetal trisomies 21, 18, and 13 in Mongolia. The assay targeted specific loci on chromosomes 21, 18, and 13, using chromosome 1 as an internal reference. A Z-score threshold >3 indicated high risk, and all positive results were confirmed by invasive karyotyping. Results: In this study we collected 74 pregnant women of advanced maternal age and samples were successfully analyzed, with high technical performance (mean >100,000 accepted droplets per reaction and clear signal separation). Ten high-risk pregnancy cases were identified (8 trisomy 21 and 2 trisomy 18), all of which showed complete concordance with confirmatory karyotyping. Complete concordance with available reference standard results were observed in this limited cohort. No trisomy 13 cases were detected. Conclusions: This ddPCR-based NIPT assay exhibited excellent diagnostic accuracy and reproducibility in a Mongolian cohort of advanced maternal age pregnancies. Its technical simplicity, relatively low cost, and minimal infrastructure requirements make it a promising tool for implementation in resource-limited settings. However, the small sample size limits generalizability, and larger multicenter studies are needed to confirm clinical utility across broader populations, including low-risk pregnancies.

Background/Objectives: Advanced maternal age (≥35 years) significantly increases the risk of fetal chromosomal abnormalities, particularly trisomies 21, 18, and 13. Non-invasive prenatal testing (NIPT) based on cell-free fetal DNA (cffDNA) in maternal plasma has substantially improved the accuracy and safety of prenatal screening. Methods: We previously developed and clinically validated a multiplex droplet digital PCR (ddPCR)-based NIPT assay for detecting fetal trisomies 21, 18, and 13 in Mongolia. The assay targeted specific loci on chromosomes 21, 18, and 13, using chromosome 1 as an internal reference. A Z-score threshold > 3 indicated high risk, and all positive results were confirmed by invasive karyotyping. Results: In this study, we collected 74 pregnant women of advanced maternal age and samples were successfully analyzed, with high technical performance (mean > 100,000 accepted droplets per reaction and clear signal separation). Ten high-risk pregnancy cases were identified (eight trisomy 21 and two trisomy 18), all of which showed complete concordance with confirmatory karyotyping. Complete concordance with available reference standard results were observed in this limited cohort. No trisomy 13 cases were detected. Conclusions: This ddPCR-based NIPT assay exhibited excellent diagnostic accuracy and reproducibility in a Mongolian cohort of advanced-maternal-age pregnancies. Its technical simplicity, relatively low cost, and minimal infrastructure requirements make it a promising tool for implementation in resource-limited settings. However, the small sample size limits generalizability, and larger multicenter studies are needed to confirm clinical utility across broader populations, including low-risk pregnancies.