دورية أكاديمية
أعرض في EDS

Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers.

التفاصيل البيبلوغرافية
العنوان: Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers.
المؤلفون: Agusti I; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Alvarez-Mora MI; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and FCRB- Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), C/Villarroel, 170, Barcelona, 08036, Spain.; CIBER of Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Wijngaard R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboud University, Nijmegen, The Netherlands., Borras A; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Barcos T; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and FCRB- Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), C/Villarroel, 170, Barcelona, 08036, Spain., Peralta S; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Guimera M; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Goday A; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Manau D; Clinical Institute of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic of Barcelona and FCRB-Institut de Investigacions Biomediques August Pi iSunyer (IDIBAPS), Barcelona, Spain., Rodriguez-Revenga L; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and FCRB- Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), C/Villarroel, 170, Barcelona, 08036, Spain. lbodi@clinic.cat.; CIBER of Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain. lbodi@clinic.cat.
المصدر: Journal of ovarian research [J Ovarian Res] 2024 May 17; Vol. 17 (1), pp. 103. Date of Electronic Publication: 2024 May 17.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101474849 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-2215 (Electronic) Linking ISSN: 17572215 NLM ISO Abbreviation: J Ovarian Res Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [London] : BioMed Central, c2008-
مواضيع طبية MeSH: Fragile X Mental Retardation Protein*/genetics , Ovarian Reserve*/genetics , Biomarkers*/blood , Anti-Mullerian Hormone*/blood , Primary Ovarian Insufficiency*/genetics , Primary Ovarian Insufficiency*/blood, Humans ; Female ; Adult ; Heterozygote ; Fragile X Syndrome/genetics ; Fragile X Syndrome/blood ; Mutation ; Ovarian Follicle/metabolism ; Young Adult
مستخلص: Background: Fragile X-associated primary ovarian insufficiency (FXPOI), characterized by amenorrhea before age 40 years, occurs in 20% of female FMR1 premutation carriers. Presently, there are no molecular or biomarkers that can help predicting which FMR1 premutation women will develop FXPOI. We previously demonstrated that high FMR4 levels can discriminate between FMR1 premutation carriers with and without FXPOI. In the present study the relationship between the expression levels of FMR4 and the ovarian reserve markers was assessed in female FMR1 premutation carriers under age of 35 years.
Methods: We examined the association between FMR4 transcript levels and the measures of total antral follicle count (AFC) and serum anti-müllerian hormone (AMH) levels as markers of ovarian follicle reserve.
Results: Results revealed a negative association between FMR4 levels and AMH (r = 0.45) and AFC (r = 0.64). Statistically significant higher FMR4 transcript levels were found among those FMR1 premutation women with both, low AFCs and AMH levels.
Conclusions: These findings reinforce previous studies supporting the association between high levels of FMR4 and the risk of developing FXPOI in FMR1 premutation carriers.
(© 2024. The Author(s).)
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معلومات مُعتمدة: 19-FE-011 Fundación Merck Salud; 19-FE-011 Fundación Merck Salud
فهرسة مساهمة: Keywords: FMR1 premutation; FMR4; Fragile X-associated primary ovarian insufficiency; Ovarian follicle reserve
المشرفين على المادة: 0 (FMR1 protein, human)
تواريخ الأحداث: Date Created: 20240517 Date Completed: 20240518 Latest Revision: 20240520
رمز التحديث: 20240520
مُعرف محوري في PubMed: PMC11100203
DOI: 10.1186/s13048-024-01425-0
PMID: 38760837
قاعدة البيانات: MEDLINE
الوصف
تدمد:1757-2215
DOI:10.1186/s13048-024-01425-0