The role of the FMR1 gene in the development of reproductive and neurological disorders
- Autores: Marchenko L.A.1, Rshtuni S.J.1, Zaretskaya N.V.1, Pikhut P.P.1, Mashaeva R.I.1
-
Afiliações:
- Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
- Edição: Nº 3 (2018)
- Páginas: 22-28
- Seção: Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/248149
- DOI: https://doi.org/10.18565/aig.2018.3.22-28
- ID: 248149
Citar
Texto integral
Acesso está concedido
Acesso é pago ou somente para assinantes
Resumo
Palavras-chave
Texto integral
Sobre autores
Larisa Marchenko
Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: l.a.marchenko@yandex.ru
MD, Professor, Leading Researcher of the Department of Gynecological Endocrinology
Sandra Rshtuni
Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: rshtunisandra@gmail.com
post-graduate student of gynecological endocrinology department
Nadezhda Zaretskaya
Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: n_zaretskaya@oparina4.ru
Ph.D., Senior Researcher, Department of Reproductive Genetics Laboratory
Petr Pikhut
Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: pit-petad@mail.ru
resident of the 2nd year of training
Roza Mashaeva
Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: mashaevarosa@gmail.com
post-graduate student of the department of gynecological endocrinology
Bibliografia
- Hansen K.R., Knowlton N.S., Thyer A.C., Charleston J.S., Soules M.R., Klein N.A. A new model of reproductive aging: the decline in ovarian non-growing follicle number from birth to menopause. Hum. Reprod. 2008; 23(3): 699-708.
- Wallace W.H., Kelsey T.W. Human ovarian reserve from conception to the menopause. PLoS One. 2010; 5(1): e8772.
- Barad D.H., Weghofer A., Gleicher N. Age-specific levels for basal folliclestimulating hormone (FSH) assessment of ovarian function. Obstet. Gynecol. 2007; 109(6): 1404-10.
- Barad D.H., Weghofer A., Gleicher N. Utility of age-specific serum anti-Müllerian hormone concentrations. Reprod. Biomed. Online. 2011; 22(3): 28491.
- Nikolaou D., Templeton A. Early ovarian ageing: a hypothesis. Detection and clinical relevance. Hum. Reprod. 2003; 18(6): 1137-9.
- Nelson L.M. Clinical practice. Primary ovarian insufficiency. N. Engl. J. Med. 2009; 360(6): 606-14.
- Gleicher N., Weghofer A., Barad D.H. Ovarian reserve determinations suggest new function of FMR1 (fragile X gene) in regulating ovarian ageing. Reprod. Biomed. Online. 2010; 20(6): 768-75.
- Gleicher N., Weghofer A., Oktay K., Barad D. Relevance of triple CGG repeats on the FMR1 gene to ovarian reserve. Reprod. Biomed. Online. 2009; 19(3): 385-90.
- Welt C.K., Smith P.C., Taylor A.E. Evidence of early ovarian aging in fragile X premutation carriers. J. Clin. Endocrinol. Metab. 2004; 89(9): 4569-74.
- Verkerk A.J.M., Pieretti M., Sutcliffe J.S., Fu Y.H., Kuhl D.P.A., Pizzuti A. et al. Identification of a gene FMR-1 containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991; 65(5): 905-14.
- Yu S., Pritchard M., Kremer E., Lynch M., Nancarrow J., Baker E. et al. Fragile X genotype characterized by an unstable region of DNA. Science. 1991; 252(5009): 1179-81.
- Eichler E.E., Richards S., Gibbs R.A., Nelson D.L. Fine structure of the human FMR1 gene. Hum. Mol. Genet. 1993; 2(8): 1147-53.
- Chen L.S., Tassone F., Sahota P., Hagerman P.J. The (CGG)n repeat element within the 5’ untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum. Mol. Genet. 2003; 12(23): 3067-74.
- Sullivan A.K., Marcus M., Epstein M.P., Allen E.G., Anido A.E., Paquin J.J. et al. Association of FMR1 repeat size with ovarian dysfunction. Hum. Reprod. 2005; 20(2): 402-12.
- Lu C., Lin L., Tan H., Wu H., Sherman S.L., Gao F. et al. Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. Hum. Mol. Genet. 2012; 21(23): 5039-47.
- Hill M.K., Archibald A.D., Cohen J., Metcalfe S.A. A systematic review of population screening for fragile X syndrome. Genet. Med. 2010; 12(7): 396-410.
- Monaghan K.G., Lyon E., Spector E.B.; American College of Medical Genetics and Genomics. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet. Med. 2013; 15(7): 575-86.
- Tassone F. Newborn screening for fragile X syndrome. JAMA Neurol. 2014; 71(3): 355-9. doi: 10.1001/jamaneurol.2013.4808.
- Hagerman P.J. The fragile X prevalence paradox. J. Med. Genet. 2008; 45(8): 498-9.
- Patsalis P.C., Sismani C., Hettinger J.A., Holden J., Lawson J.S., Chalifoux M. et al. Frequencies of “grey zone” and premutation size FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada. Am. J. Med. Genet. 1999; 84(3): 195-7.
- Larsen L.A., Gronskov K., Norgaard-Pedersen B., Brondum-Nielsen K., Hasholt L., Vuust J. High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis. Hum. Genet. 1997; 100(5-6): 564-8.
- Шамилова Н.Н. Клинико-прогностическое значение молекулярно-биологических маркеров при преждевременной недостаточности яичников: дисс.. канд. мед. наук. М.; 2009. [Shamilova N.N. Clinical and prognostic significance of molecular-biological markers in premature ovarian failure: diss.. cand. med. sciences. Moscow; 2009. (in Russian)]
- Gleicher N., Weghofer A., Barad D.H. Discordances between follicle stimulating hormone (FSH) and anti-Müllerian hormone (AMH) in female infertility. Reprod. Biol. Endocrinol. 2010; 8: 64.
- Ennis S., Ward D., Murray A. Nonlinear association between CGG repeat number and age of menopause in FMR1premutation carriers. Eur. J. Hum. Genet. 2006; 14(2): 253-5.
- Murray A., Webb J., Grimley S., Conway G., Jacobs P. Studies of FRAXA and FRAXE in women with premature ovarian failure. J. Med. Genet.1998; 35(8): 637-40.
- Cantu J.M., Scaglia H.E., Medina M., Gonzalez-Diddi M., Morato T., Moreno M.E., Pérez-Palacios G. Inherited congenital normofunctional testicular hyperplasia and mental deficiency. Hum. Genet. 1976; 33(1): 23-33.
- Oberle I., Rousseau F., Heitz D., Kretz C., Devys D., Hanauer A. et al. Instability of a 550-base pair D.N.A segment and abnormal methylation in fragile X syndrome. Science. 1991; 252(5010): 1097-102.
- Devys D., Lutz Y., Rouyer N., Bellocq J.P., Mandel J.L. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat. Genet. 1993; 4(4): 335-40.
- Gleicher N., Barad D.H. The FMR1 gene as regulator of ovarian recruitment and ovarian reserve. Obstet. Gynecol. Surv. 2010; 65(8): 523-30.
- Pembrey M.E., Winter R.M., Davies K.E. A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation. Am. J. Med. Genet. 1985; 21(4): 709-17.
- Fu Y.H., Kuhl D.P., Pizzuti A., Pieretti M., Sutcliffe J.S., Richards S. et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 1991; 67(6): 1047-58.
- Wittenberger M.D., Hagerman R.J., Sherman S.L., McConkie-Rosell A., Welt C.K., Rebar R.W. et al. The FMR1 premutation and reproduction. Fertil. Steril. 2007; 87(3): 456-65.
- Nolin S.L., Brown W.T., Glicksman A., Houck G.E. Jr., Gargano A.D., Sullivan A. et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am. J. Hum. Genet. 2003; 72(2): 454-64.
- Hagerman R., Hagerman P. Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol. 2013; 12(8): 786-98.
- Sherman S.L. Premature ovarian failure in the fragile X syndrome. Am. J. Med. Genet. 2000; 97(3): 189-94.
- Bretherick K.L., Fluker M.R., Robinson W.P. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum. Genet. 2005; 117(4): 376-82.
- Bodega B., Bione S., Dalpra L., Toniolo D., Ornaghi F., Vegetti W. et al. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum. Reprod. 2006; 21(4): 952-7.
- Табеева Г.И. Оценка андрогенного статуса при преждевременной недостаточности яичников и дифференциальный подход к лечению: дисс.. канд. мед. наук. М.; 2009.
- Bennett C., Conway G., Macpherson J., Jacobs P., Murray A. Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure. Hum. Reprod. 2010; 25(5): 1335-8.
- Streuli I., Fraisse T., Ibecheole V., Moix I., Morris M.A., de Ziegler D. Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency. Fertil. Steril. 2009; 92(2): 464-70.
- Zhang X, Zhuang X., Gan S., Wu Z., Chen W., Hu Y., Wang N. Screening for FMR1 expanded alleles in patients with parkinsonism in mainland China. Neurosci. Lett. 2012; 514(1): 16-21.
- Hall D.A., Berry-Kravis E., Zhang W., Tassone F., Spector E., Zerbe G. et al. FMR1gray-zone alleles: association with Parkinson’s disease in women? Mov. Disord. 2011; 26(10): 1900-6.
- Hall D.A., Jennings D., Seibyl J., Tassone F., Marek K. FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients. Parkinsonism Relat. Disord. 2010; 16(9): 608-11.
- Fernandez-Carvajal I., Lopez Posadas B., Pan R., Raske C., Hagerman P.J., Tassone F. Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J. Mol. Diagn. 2009; 11(4): 306-10.
- Terracciano A., Pomponi M.G., Marino G.M., Chiurazzi P., Rinaldi M.M., Dobosz M., Neri G. Expansion to full mutation ofa FMR1 intermediate allele over two generations. Eur. J. Hum. Genet. 2004; 12(4): 333-6.
- Gleicher N., Barad D. Dehydroepiandrosterone (DHEA) supplementation in diminished ovarian reserve (DOR). Reprod. Biol. Endocrinol. 2011; 9: 67.
- Wang J.Y., Hessl D., Iwahashi C., Cheung K., Schneider A., Hagerman R. J. et al. Influence of the fragile X mental retardation (FMR1) gene on the brain and working memory in men with normal FMR1 alleles. Neuroimage. 2013; 65: 288-98.
- Mailick M.R., Hong J., Rathouz P., Baker M.W., Greenberg J.S., Smith L., Maenner M. Low - normal FMR1 CGG repeat length: phenotypic associations. Front. Genet. 2014; 5: 309.
- Gleicher N., Weghofer A., Barad D.H. A pilot study of premature ovarian senescence: I correlation of triple CGG repeats on the FMR1 gene to ovarian reserve parameters FSH and anti-Müllerian hormone. Fertil. Steril. 2009; 91(5): 1700-6.
- American College of Obstetrics and Gynecology. ACOG committee opinion. No. 338: Screening for fragile X syndrome. Obstet. Gynecol. 2006; 107(6): 1483-5.
- Sherman S., Pletcher B.A., Driscoll D.A. Fragile X syndrome: diagnostic and carrier testing. Genet. Med. 2005; 7(8): 584-7.