The importance of the genetic factor in the aetiology of premature ovarian failure (POF) is emphasized by the high percentage of familial cases and X chromosome abnormalities account for 10% of chromosomal aberrations. In this study, we report the detailed analysis of 4 chromosomal abnormalities involving the X chromosome and associated with POF that were detected during a screening of 269 affected women. Conventional and molecular cytogenetics were valuable tools for locating the breakpoint regions and thus the following karyotypes were defined: 46,X,der(X)t(X;19)(p21.1;q13.42)mat, 46,X,t(X;2)(q21.33;q14.3)dn, 46,X,der(X)t(X;Y)(q26.2;q11.223)mat and 46,X,t(X;13)(q13.3;q31)dn. A bioinformatic analysis of the breakpoint regions identified putative candidate genes for ovarian failure near the breakpoint regions on the X chromosome or on autosomes that were involved in the translocation event. HS6ST1, HS6ST2 and MATER genes were identified and their functions and a literature review revealed an interesting connection to the POF phenotype. Moreover, the 19q13.32 locus is associated with the age of onset of the natural menopause. These results support the position effect of the breakpoint on flanking genes, and cytogenetic techniques, in combination with bioinformatic analysis, may help to improve what is known about this puzzling disorder and its diagnostic potential.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443441 | PMC |
| http://dx.doi.org/10.1186/1755-8166-5-32 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Construction and Comparison of Machine Learning-Based Risk Prediction Models for Major Adverse Cardiovascular Events in Perimenopausal Women.
Int J Gen Med
January 2025
Office of Health Care, Binzhou Medical University Hospital, Binzhou, Shandong, 256600, People's Republic of China.
Background: Perimenopausal period is a period of physiological changes in women with signs of ovarian failure, including menopausal transition period and 1 year after menopause. Ovarian function declines in perimenopausal women and lower estrogen levels lead to changes in the function of various organs, which may lead to cardiovascular disease. Major adverse cardiovascular events (MACE) are the combination of clinical events including heart failure, myocardial infarction and other cardiovascular diseases.
View Article and Find Full Text PDFCardiovascular Disease With Hormone Therapy and Ovarian Suppression in Premenopausal Breast Cancer Survivors.
JACC CardioOncol
December 2024
Division of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, Minnesota, USA.
Background: Hormone therapies, including aromatase inhibitors and tamoxifen, are used with ovarian suppression to improve outcomes in premenopausal patients with breast cancer. Cardiovascular impacts of these treatments among premenopausal women are unknown.
Objectives: The aim of this study was to test the hypothesis that the use of aromatase inhibitors in combination with ovarian suppression, relative to tamoxifen, is associated with greater incident cardiovascular disease (CVD) risk in premenopausal breast cancer survivors.
Dual-Double Stem Cell Ovarian Therapy: A Comprehensive Approach in Regenerative Medicine.
Int J Mol Sci
December 2024
Clinic of Endocrinology, Diabetes and Diseases of National Center for Infertility and Endocrinology of Gender, 11000 Belgrade, Serbia.
Dual-double stem cell therapy, which integrates mesenchymal stem cells (MSCs) and hematopoietic stem cells (HSCs), represents a cutting-edge approach in regenerative medicine, particularly for conditions such as ovarian decline, premature ovarian insufficiency (POI), and induced ovarian failure. This therapy leverages the unique properties of MSCs and HSCs, enhancing tissue repair, immune modulation, and overall regenerative outcomes. MSCs, known for their ability to differentiate into various cell types, provide a supportive microenvironment and secrete bioactive molecules that promote angiogenesis and reduce inflammation.
View Article and Find Full Text PDFAnti-Adhesive Podocalyxin Expression Is Disrupted in Recurrent Implantation Failure.
Diagnostics (Basel)
January 2025
Department of Obstetrics and Gynecology, IVF-Unit, Acibadem Kayseri Hospital, 38140 Kayseri, Türkiye.
The downregulation of anti-adhesive regulatory proteins and upregulation of adhesive genes are critical for the receptive endometrium. This study was designed to determine whether switching between the anti-adhesive podocalyxin (PDX) and adhesive HOXA10 receptivity modulator occurs in the endometrium of women with recurrent implantation failure (RIF). Twenty-four patients with RIF who could not conceive for three or more cycles despite good-quality embryo transfer constituted the study group.
View Article and Find Full Text PDFPhase 1 Trial of TTI-101, a First-in-Class Oral Inhibitor of STAT3 in Patients with Advanced Solid Tumors.
Clin Cancer Res
January 2025
University of Texas MD Anderson Cancer Center, Houston, TX, United States.
Purpose: Signal transducer and activator of transcription 3 (STAT3) is a transcription factor that is essential for the survival and immune sequestration of cancer cells. We conducted a phase 1 study of TTI‑101, a first-in-class, selective small-molecule inhibitor of STAT3, in patients with advanced metastatic cancer.
Patients And Methods: Patients were treated with TTI-101 orally twice daily in 28-day cycles at 4 dose levels (DLs): 3.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!