Analysis of mutations in mitochondrial transfer RNA genes and the maternal inheritance of polycystic ovary syndrome DOI Creative Commons

Tanzeela Nawaz,

Tahir Hussain Awan,

Humaira Zahoor

et al.

Frontiers in Endocrinology, Journal Year: 2025, Volume and Issue: 16

Published: Feb. 18, 2025

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women of reproductive age. Despite escalating global prevalence, there currently no definitive predisposition test available for this condition. Among genetic causes, variations mitochondrial DNA (mtDNA) are increasingly recognized as a crucial contributor to development PCOS. However, cross-ethnic analysis these mutations lacking. To fill gap, our objective identify new maternal risk factors associated with PCOS by investigating transfer RNA (mt-tRNA) genes patients from Pakistan and compare those other ethnic groups. was extracted saliva samples patients. Primers were designed amplification all 22 mt-tRNA genes, PCR employed under defined conditions. Subsequently, Sanger sequencing decipher sequences genes. Following sequencing, underwent mutation analysis. Finally, we utilized MitoTIP (Mitochondrial tRNA Informatics Predictor) In cohort 64 Pakistani PCOS, unveiled eight variants five including MT-TH, MT-TL2, MT-TS1, MT-TS2, MT-TT All have not been previously reported except one recently identified patient Interestingly, carry found across distinct Furthermore, occurred highly conserved nucleotides tRNA, essential ensuring stability biochemical functionality mt-tRNA. pathogenic potential assessed silico The pathogenicity prediction suggests their impact on dysfunction that responsible clinical phenotypes Our study novel knowledge, first report comparing different data revealed carrying PCOS-associated may be specific certain populations. Together, work provides insights into role underlying pathophysiology highlighting future tests more effective therapies globally prevalent

Language: Английский

Ultrasound Assessment in Polycystic Ovary Syndrome Diagnosis: From Origins to Future Perspectives—A Comprehensive Review DOI Creative Commons
Stefano Di Michele, Anna Maria Fulghesu,

Elena Pittui

et al.

Biomedicines, Journal Year: 2025, Volume and Issue: 13(2), P. 453 - 453

Published: Feb. 12, 2025

Background: Polycystic ovary syndrome (PCOS) is the most prevalent endocrinopathy in women of reproductive age, characterized by a broad spectrum clinical, metabolic, and ultrasound findings. Over time, has evolved into cornerstone for diagnosing polycystic ovarian morphology (PCOM), thanks to advances probe technology, 3D imaging, novel stromal markers. The recent incorporation artificial intelligence (AI) further enhances diagnostic precision reducing operator-related variability. Methods: We conducted narrative review English-language articles PubMed Embase using keywords "PCOS", "polycystic syndrome", "ultrasound", "3D ultrasound", "ovarian stroma". Studies on criteria, imaging modalities, assessment, machine-learning algorithms were prioritized. Additional references identified via citation screening. Results: Conventional 2D remains essential clinical practice, with follicle number per (FNPO) volume (OV) functioning as primary criteria. However, sensitivity specificity values vary significantly depending frequency, cut-off thresholds (≥12, ≥20, or ≥25 follicles), patient characteristics (e.g., adolescence, obesity). Three-dimensional (3D) Doppler techniques refine PCOS diagnosis enabling automated measurements, stromal/ovarian area ratio assessments, evaluation vascular indices correlating strongly hyperandrogenism. Meanwhile, AI-driven analysis emerged promising tool minimizing observer bias validating advanced metrics SA/OA ratio) that may overcome traditional limitations stroma-based Conclusions: continual evolution ultrasound, encompassing higher frequencies, enhancements, now AI-assisted algorithms, expanded our ability characterize PCOM accurately. Nevertheless, challenges such operator dependency inter-observer variability persist despite standardized protocols; integration AI holds promise enhancing accuracy. Future directions should focus robust training datasets, multicenter validation, age-/BMI-specific cut-offs optimize balance between specificity, ultimately facilitating earlier more precise diagnoses.

Language: Английский

Citations

2

Efficacy of N-Acetylcysteine in Polycystic Ovary Syndrome: Systematic Review and Meta-Analysis DOI Open Access

Isabel Viña,

Juan R. Viña,

M. C. Carranza

et al.

Nutrients, Journal Year: 2025, Volume and Issue: 17(2), P. 284 - 284

Published: Jan. 14, 2025

Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects women of reproductive age and requires better treatment. N-acetylcysteine (NAC) known to be beneficial under such conditions owing its antioxidant potential insulin-sensitizing properties. The effect NAC on the outcomes PCOS patients was examined in this meta-analysis. Methods: In accordance with PRISMA standards, meta-analysis included studies compared N-acetylcysteine, metformin, clomiphene citrate, placebo POCS. main indicators were follicular growth, endometrial thickness, hormone level. risk bias evaluated using Cochrane ROB2 tool. Results: Twenty-two (n = 2515) included. associated statistically significant increase progesterone (SMD 0.95, 95% CI: 0.13–1.77, p 0.02) thickness 0.58, 0.10–1.06, other drugs 0.71, 0.48–0.94, < 0.0001). LH levels significantly increased by metformin 0.67, 0.23–1.12, 0.003). However, no differences observed estradiol, SHBG, or FSH levels. Conclusions: had major progesterone, PCOS. Therefore, it may treatment option.

Language: Английский

Citations

1

Analysis of mutations in mitochondrial transfer RNA genes and the maternal inheritance of polycystic ovary syndrome DOI Creative Commons

Tanzeela Nawaz,

Tahir Hussain Awan,

Humaira Zahoor

et al.

Frontiers in Endocrinology, Journal Year: 2025, Volume and Issue: 16

Published: Feb. 18, 2025

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women of reproductive age. Despite escalating global prevalence, there currently no definitive predisposition test available for this condition. Among genetic causes, variations mitochondrial DNA (mtDNA) are increasingly recognized as a crucial contributor to development PCOS. However, cross-ethnic analysis these mutations lacking. To fill gap, our objective identify new maternal risk factors associated with PCOS by investigating transfer RNA (mt-tRNA) genes patients from Pakistan and compare those other ethnic groups. was extracted saliva samples patients. Primers were designed amplification all 22 mt-tRNA genes, PCR employed under defined conditions. Subsequently, Sanger sequencing decipher sequences genes. Following sequencing, underwent mutation analysis. Finally, we utilized MitoTIP (Mitochondrial tRNA Informatics Predictor) In cohort 64 Pakistani PCOS, unveiled eight variants five including MT-TH, MT-TL2, MT-TS1, MT-TS2, MT-TT All have not been previously reported except one recently identified patient Interestingly, carry found across distinct Furthermore, occurred highly conserved nucleotides tRNA, essential ensuring stability biochemical functionality mt-tRNA. pathogenic potential assessed silico The pathogenicity prediction suggests their impact on dysfunction that responsible clinical phenotypes Our study novel knowledge, first report comparing different data revealed carrying PCOS-associated may be specific certain populations. Together, work provides insights into role underlying pathophysiology highlighting future tests more effective therapies globally prevalent

Language: Английский

Citations

0