4.7 Article

Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts

Journal

FERTILITY AND STERILITY
Volume 95, Issue 2, Pages 635-640

Publisher

ELSEVIER SCIENCE INC
DOI: 10.1016/j.fertnstert.2010.08.054

Keywords

MTHFR; MTRR; polymorphism; sperm counts; plasma homocysteine level

Funding

  1. Institut Pasteur and Laboratoire d'Eylau, Paris

Ask authors/readers for more resources

Objective: To investigate the relationship between MTHFR and MTRR genetic variants with respect to both blood plasma homocysteine concentration and sperm counts. Design: Polymerase chain reaction followed by specific enzymatic digestion to determine the genotype of the individuals and blood plasma homocysteine quantification by high-performance liquid chromatography. Setting: Research laboratory. Patient(s): Two hundred sixty-eight men seeking infertility counseling and 254 partners of infertile women. Intervention(s): We studied three MTHFR (c.1286A -> C, c.665C -> T and c.203G -> A) and two MTRR (c.66A -> G and c.524C -> T) single-nucleotide polymorphisms and characterized sperm parameters in both oligozoospermic and normospermic men. A cohort of 522 men was examined for this study. A subgroup of 103 men was constituted for quantification of Hcy levels. Main Outcome Measure(s): Semen samples were collected for determinations of sperm concentration, motility, and morphology according to World Health Organization guidelines as well as for DNA isolation. Blood samples of the corresponding individuals were obtained to quantify plasma homocysteine levels. Result(s): We did not observe a relationship between homocysteinemia and sperm counts. The MTHFR c.665C -> T variant is associated with mild hyperhomocysteinemia in blood plasma in the TT homozygous state. Conclusion(s): No association was found between MTHFR/MTRR genetic variants and sperm counts. Although no association was observed with reduced sperm counts, the MTHFR 665TT genotype is associated with a significant increase in blood plasma homocysteine levels. (Fertil Steril (R) 2011;95:635-40. (C) 2011 by American Society for Reproductive Medicine.)

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.7
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

Article Developmental Biology

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

Sylvie Jaillard, Kenneth McElreavy, Gorjana Robevska, Linda Akloul, Farah Ghieh, Rajini Sreenivasan, Marion Beaumont, Anu Bashamboo, Joelle Bignon-Topalovic, Anne-Sophie Neyroud, Katrina Bell, Elisabeth Veron-Gastard, Erika Launay, Jocelyn van den Bergen, Benedicte Nouyou, Francois Vialard, Marc-Antoine Belaud-Rotureau, Katie L. Ayers, Sylvie Odent, Celia Ravel, Elena J. Tucker, Andrew H. Sinclair

MOLECULAR HUMAN REPRODUCTION (2020)

Article Medicine, General & Internal

High-Dose Supplementation of Folic Acid in Infertile Men Improves IVF-ICSI Outcomes: A Randomized Controlled Trial (FOLFIV Trial)

Emmanuelle Mathieu d'Argent, Celia Ravel, Alexandra Rousseau, Karine Morcel, Nathalie Massin, Julie Sussfeld, Tabassome Simon, Jean-Marie Antoine, Jacqueline Mandelbaume, Emile Darai, Kamila Kolanska

Summary: High-dose folic acid supplementation in men with male infertility undergoing IVF-ICSI has been shown to increase the biochemical pregnancy rate, reduce DNA fragmentation, and potentially improve the clinical pregnancy rate. Despite no observed changes in sperm characteristics, folic acid supplementation appears to have a positive impact on IVF-ICSI outcomes for male infertility patients.

JOURNAL OF CLINICAL MEDICINE (2021)

Article Urology & Nephrology

Self-assessment of healthcare workers regarding the management of trans people in a university hospital

L. Freton, Z-E Khene, C. Richard, R. Mathieu, Q. Alimi, E. Duval, L. Vassal, N. Bertheuil, S. Aillet, F. Bonnet, C. Ravel, A. Guenego, D. Travers, N. Morel-Journel, J. Hascoet, B. Peyronnet

Summary: Healthcare professionals in a French university hospital lack comfort in managing trans people, mainly due to a lack of knowledge and training in this area, rather than disagreement with the need for transgender healthcare.

PROGRES EN UROLOGIE (2021)

Article Andrology

Fertility preservation and sperm donation in transgender individuals: The current situation within the French CECOS network

Florence Eustache, Veronique Drouineaud, Nicolas Mendes, Beatrice Delepine, Charlotte Dupont, Sophie Mirallie, Aline Papaxanthos, Catherine Metzler-Guillemain, Aurelie Rives-Feraille, Fanny Magnan, Cecile Greze, Sylviane Hennebicq, Isabelle Koscinski, Hortense Drapier, Cynthia Frapsauce, Anne Mayeur, Marie-Ange Carlotti, Joffrey Mons, Francoise Schmitt, Pascale May-Panloup, Oxana Blagosklonov, Florence Brugnon, Stephanie Mestres, Rosalie Cabry, Patricia Fauque, Vanessa Loup-Cabaniols, Celia Ravel, Rachel Levy, Catherine Patrat, Emmanuelle Thibault, Nelly Frydman, Louis Bujan, Catherine Moriniere, Berengere Ducrocq, Nathalie Rives

Summary: The study evaluated the distribution of care on the French territory concerning fertility preservation and sperm donation in transgender individuals. Results showed that these assisted reproductive technologies are present throughout France, with significant growth in both fertility preservation and sperm donation for transgender individuals, and improvement in patient care year after year.

ANDROLOGY (2021)

Review Cell Biology

MERTK-Mediated LC3-Associated Phagocytosis (LAP) of Apoptotic Substrates in Blood-Separated Tissues: Retina, Testis, Ovarian Follicles

Marina G. Yefimova, Celia Ravel, Antoine D. Rolland, Nicolas Bourmeyster, Bernard Jegou

Summary: Efficient elimination of apoptotic substrates is crucial for tissue homeostasis in the retina, testis, and ovaries, and is achieved by phagocytic cells like RPE, Sertoli cells, and GC. Disruption of this process can lead to functional ablation and vision loss in the retina, and compromised fertility in males and females. Cooperation between TAM RTKs, autophagy-related proteins, LAP, and TLR plays a pivotal role in maintaining tissue homeostasis and preventing functional ablation of these tissues.

CELLS (2021)

Review Pharmacology & Pharmacy

Development of extracellular vesicle-based medicinal products: A position paper of the group Extracellular Vesicle translatiOn to clinicaL perspectiVEs-EVOLVE France

Amanda K. A. Silva, Marie Morille, Max Piffoux, Surendar Arumugam, Phlippe Mauduit, Jerome Larghero, Arnaud Bianchi, Kelly Aubertin, Olivier Blanc-Brude, Daniele Noel, Emilie Velot, Celia Ravel, Celine Elie-Caille, Anna Sebbagh, Chantal Boulanger, Claire Wilhelm, Gabriel Rahmi, Isabelle Raymond-Letron, Kondareddy Cherukula, Tristan Montier, Christophe Martinaud, Jean-Marie Bach, Olivier Favre-Bulle, Jolanda Spadavecchia, Christian Jorgensen, Philippe Menasche, Clotilde Aussel, Joel Chopineau, Mathilde Mosser, Matti Ullah, Nicolas Sailliet, Nathalie Luciani, Noelle Mathieu, Pierre-Emmanuel Rautou, Sophie Brouard, Wilfrid Boireau, Sebastien Jauliac, Marianne Dedier, Jean-Hugues Trouvin, Florence Gazeau, Marina Trouillas, Juliette Peltzer, Antoine Monsel, Sebastien Banzet

Summary: The translation of EV research into medicinal products presents an exciting and challenging perspective, requiring fulfillment of quality, safety, and efficacy criteria. Active contributions from regulatory agencies, expert networks, and the newly established EVOLVE group in France play important roles in this translation process.

ADVANCED DRUG DELIVERY REVIEWS (2021)

Article Biochemistry & Molecular Biology

Myelinosome Organelles in the Retina of R6/1 Huntington Disease (HD) Mice: Ubiquitous Distribution and Possible Role in Disease Spreading

Marina G. Yefimova, Emile Bere, Anne Cantereau-Becq, Annie-Claire Meunier-Balandre, Bruno Merceron, Agnes Burel, Karine Merienne, Celia Ravel, Frederic Becq, Nicolas Bourmeyster

Summary: The study focused on the ultrastructure of the pathological retina in HD R6/1 mice and discovered the presence of myelinosomes, abnormal organelles enriched with mutant Huntingtin protein, which may contribute to the spread of HD in the retina. Exploring the presence of myelinosomes in ocular fluids could potentially serve as an additional biomarker for HD diagnostics.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Review Andrology

Extra-cellular vesicles of the male genital tract: new actors in male fertility?

Anne-Sophie Neyroud, Regina Chiechio, Marina Yefimova, Maria Jose Lo Faro, Nathalie Dejucq-Rainsford, Sylvie Jaillard, Pascale Even-Hernandez, Valerie Marchi, Celia Ravel

Summary: Extracellular Vesicles (EVs) are membrane-limited particles secreted by healthy and cancerous cells, containing proteins, lipids, metabolites and nucleic acids, mediating various biological functions. In the male genital tract, three subtypes of EV have been described, differing in secretion location such as the testis, prostate or epididymis. EVs can fuse together, deliver information to recipient cells like spermatozoa, and potentially modulate transmitted information to the next generation through epigenetic changes.

BASIC AND CLINICAL ANDROLOGY (2021)

Article Biochemistry & Molecular Biology

Impact of Endocrine Disruptors upon Non-Genetic Inheritance

Debbie Montjean, Anne-Sophie Neyroud, Marina G. Yefimova, Moncef Benkhalifa, Rosalie Cabry, Celia Ravel

Summary: EDCs can influence gene expression through epigenetic alterations, leading to transgenerational inheritance of traits. Mechanisms such as DNA methylation, acetylation, histone modification, RNA-mediated effects, and extracellular vesicle effects have been implicated. While limited effects on sperm epigenetics have been described, there has been growing interest in this issue in recent years.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

Article Urology & Nephrology

Male contraception: What do women think?

C. Richard, M. Pourchasse, L. Freton, M. Esvan, C. Ravel, B. Peyronnet, R. Mathieu, S. Chhor

Summary: This research explores women's perceptions of male contraception and finds that the majority of women support men taking responsibility for contraception. However, the proportion decreases after women are informed about existing and developing male contraceptives. The most acceptable method for women is the male pill, but there is a lack of knowledge about male contraception.

PROGRES EN UROLOGIE (2022)

Article Obstetrics & Gynecology

Motivations and personality characteristics of candidate sperm and oocyte donors according to parenthood status: a national study from the French CECOS network

L. Bujan, N. Nouri, A. Papaxanthos-Roche, B. Ducrocq, F. Brugnon, C. Ravel, N. Rives, M. Teletin, V Drouineaud, B. Delepine, I Berthaut, C. Metzler-Guillemain, A. Devaux, C. Frapsauce, E. Thibault, O. Blagosklonov, M. A. Clarotti, C. Diligent, V Loup Cabaniols, P. Fauque, M. Benchaib, F. Eustache, M. Daudin

Summary: There are moderate differences between non-parent and parent candidates in terms of motivations for gamete donation and personality characteristics.

HUMAN REPRODUCTION OPEN (2022)

Meeting Abstract Obstetrics & Gynecology

Methylation dynamics of the sperm epigenome after chemotherapy: a case study

A. S. Neyroud, A. Rolland, B. Evrard, N. Alary, N. Dejucq-Rainsford, B. Jegou, L. Bujan, C. Ravel, F. Chalmel

HUMAN REPRODUCTION (2021)

Review Medicine, Research & Experimental

Myelinosomes: A new pathway of protein quality control

Yefimova Marina, Celia Ravel, Neyroud Anne-Sophie, Emile Bere, Nicolas Bourmeyster

M S-MEDECINE SCIENCES (2020)

Article Obstetrics & Gynecology

Anonymity of gamete donation and genetic testing

A-S Neyroud, M. Roche, M. Domin, S. Jaillard, C. Ravel

GYNECOLOGIE OBSTETRIQUE FERTILITE & SENOLOGIE (2020)

Article Geriatrics & Gerontology

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

Sylvie Jaillard, Katrina Bell, Linda Akloul, Kelly Walton, Kenneth McElreavy, William A. Stocker, Marion Beaumont, Craig Harrisson, Tiina Jaaskelainen, Jorma J. Palvimo, Gorjana Robevska, Erika Launay, Anne-Pascale Satie, Nurin Listyasari, Claude Bendavid, Rajini Sreenivasan, Solene Duros, Jocelyn van den Bergen, Catherine Henry, Mathilde Domin-Bernhard, Laurence Cornevin, Nathalie Dejucq-Rainsford, Marc-Antoine Belaud-Rotureau, Sylvie Odent, Katie L. Ayers, Celia Ravel, Elena J. Tucker, Andrew H. Sinclair

MATURITAS (2020)

No Data Available