Abstract
The Premature Ovarian Failure (POF) syndrome is a very heterogeneous clinical disorder due probably to the complex genetic networks controlling human folliculogenesis. Clinical subgroups of POF patients whose aetiology of ovarian failure is based on the same genetic factors are therefore difficult to establish. Some experimental evidence suggests that these genes might be clustered on the female sex chromosome in the POF1 and POF2 loci. This review is aimed to present an overview of the actual structural changes of the X chromosome causing POF, and to present a number of X and autosomal female fertility genes which are probably key genes in human folliculogenesis and are therefore prominent POF candidate genes. Towards the molecular analysis of their functional contribution to the genetic aetiology of POF in the clinic, an interdisciplinary scheme for their diagnostic analysis is presented in a pilot study focussed on chromosome analyses and the expression analysis of some major POF candidate genes (DAZL, DBX, FOXL2, INHa, GDF9, USP9X) in the leukocytes of 101 POF patients. It starts with a comprehensive and significantly improved clinical diagnostic program for this large and heterogenous patient group.
Keywords: POF-syndrome, Turner-syndrome, POF loci and key genes, human folliculogenesis
Current Medicinal Chemistry
Title: Premature Ovarian Failure (POF) Syndrome: Towards the Molecular Clinical Analysis of its Genetic Complexity
Volume: 13 Issue: 12
Author(s): W. Fassnacht, A. Mempel, T. Strowitzki and P. H. Vogt
Affiliation:
Keywords: POF-syndrome, Turner-syndrome, POF loci and key genes, human folliculogenesis
Abstract: The Premature Ovarian Failure (POF) syndrome is a very heterogeneous clinical disorder due probably to the complex genetic networks controlling human folliculogenesis. Clinical subgroups of POF patients whose aetiology of ovarian failure is based on the same genetic factors are therefore difficult to establish. Some experimental evidence suggests that these genes might be clustered on the female sex chromosome in the POF1 and POF2 loci. This review is aimed to present an overview of the actual structural changes of the X chromosome causing POF, and to present a number of X and autosomal female fertility genes which are probably key genes in human folliculogenesis and are therefore prominent POF candidate genes. Towards the molecular analysis of their functional contribution to the genetic aetiology of POF in the clinic, an interdisciplinary scheme for their diagnostic analysis is presented in a pilot study focussed on chromosome analyses and the expression analysis of some major POF candidate genes (DAZL, DBX, FOXL2, INHa, GDF9, USP9X) in the leukocytes of 101 POF patients. It starts with a comprehensive and significantly improved clinical diagnostic program for this large and heterogenous patient group.
Export Options
About this article
Cite this article as:
Fassnacht W., Mempel A., Strowitzki T. and Vogt H. P., Premature Ovarian Failure (POF) Syndrome: Towards the Molecular Clinical Analysis of its Genetic Complexity, Current Medicinal Chemistry 2006; 13 (12) . https://dx.doi.org/10.2174/092986706776872943
DOI https://dx.doi.org/10.2174/092986706776872943 |
Print ISSN 0929-8673 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-533X |
Call for Papers in Thematic Issues
Advances in Medicinal Chemistry: From Cancer to Chronic Diseases.
The broad spectrum of the issue will provide a comprehensive overview of emerging trends, novel therapeutic interventions, and translational insights that impact modern medicine. The primary focus will be diseases of global concern, including cancer, chronic pain, metabolic disorders, and autoimmune conditions, providing a broad overview of the advancements in ...read more
Approaches to the treatment of chronic inflammation
Chronic inflammation is a hallmark of numerous diseases, significantly impacting global health. Although chronic inflammation is a hot topic, not much has been written about approaches to its treatment. This thematic issue aims to showcase the latest advancements in chronic inflammation treatment and foster discussion on future directions in this ...read more
Cellular and Molecular Mechanisms of Non-Infectious Inflammatory Diseases: Focus on Clinical Implications
The Special Issue covers the results of the studies on cellular and molecular mechanisms of non-infectious inflammatory diseases, in particular, autoimmune rheumatic diseases, atherosclerotic cardiovascular disease and other age-related disorders such as type II diabetes, cancer, neurodegenerative disorders, etc. Review and research articles as well as methodology papers that summarize ...read more
Chalcogen-modified nucleic acid analogues
Chalcogen-modified nucleosides, nucleotides and oligonucleotides have been of great interest to scientific research for many years. The replacement of oxygen in the nucleobase, sugar or phosphate backbone by chalcogen atoms (sulfur, selenium, tellurium) gives these biomolecules unique properties resulting from their altered physical and chemical properties. The continuing interest in ...read more
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Therapeutic Implications of Tocilizumab, A Humanized Anti-Interleukin-6 Receptor Antibody, for Various Immune-Mediated Diseases: An Update Review
Current Rheumatology Reviews A Stress Repair Mechanism That Maintains Vertebrate Structure During Stress
Cardiovascular & Hematological Disorders-Drug Targets The Emerging Role of Bcr-Abl-Induced Cystoskeletal Remodeling in Systemic Persistence of Leukemic Stem Cells
Current Drug Delivery Large Porous Hollow Particles: Lightweight Champions of Pulmonary Drug Delivery
Current Pharmaceutical Design Tuberculosis Therapeutics: Past Achievements, Present Road-Blocks and Future Perspectives
Letters in Drug Design & Discovery An Engrossing History of Azidothymidine
Immunology, Endocrine & Metabolic Agents in Medicinal Chemistry (Discontinued) The Serotonergic System: Its Role in Pathogenesis and Early Developmental Treatment of Autism
Current Neuropharmacology New Drugs for Immune Targeting
Immunology, Endocrine & Metabolic Agents in Medicinal Chemistry (Discontinued) Angiotensin-Converting Enzyme - New Insights into Structure, Biological Significance and Prospects for Domain-Selective Inhibitors
Current Enzyme Inhibition Medulloblastoma: Role of Developmental Pathways, DNA Repair Signaling, and Other Players
Current Molecular Medicine Roles for Serotonin in Neurodevelopment: More than just Neural Transmission
Current Neuropharmacology Targeting Drugs Against Fibroblast Growth Factor(s)-Induced Cell Signaling
Current Drug Targets Association between the Use of Inhaled Corticosteroids and Pulmonary Nontuberculous Mycobacterial Infection: A Systematic Review
Current Respiratory Medicine Reviews Improving the Treatment of Schizophrenia: Role of 5-HT Receptors in Modulating Cognitive and Extrapyramidal Motor Functions
CNS & Neurological Disorders - Drug Targets Alzheimers Disease: From Pathogenesis to Disease-Modifying Approaches
CNS & Neurological Disorders - Drug Targets Innate Immunity and Microbes: Conversations with the Gut Leading to Intestinal Tissue Repair and Fibrosis
Anti-Inflammatory & Anti-Allergy Agents in Medicinal Chemistry Medical Treatment of Primary, Secondary, and Tertiary Hyperparathyroidism
Current Drug Safety Current Animal Models of Bronchial Asthma
Current Pharmaceutical Design Gene Expression Signatures in Primary Immunodeficiencies: The Experience from Human Disease and Mouse Models
Current Molecular Medicine Insulin-Degrading Enzyme: Structure-Function Relationship and its Possible Roles in Health and Disease
Current Pharmaceutical Design