Decreased sperm function of patients with myotonic muscular dystrophy

Hortas, Maria Luisa; Castilla, José Antonio; Gil, Moran; Molina, Juan Antonio Maldonado; Garrido, Manuela; Morell, M; Redondo, Maximino

doi:10.1093/humrep/15.2.445

Cited by 31 publications

(19 citation statements)

References 17 publications

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“…Indeed, many studies found hypogonadism with sperm count defects (Hortas et al, 2000), testicular atrophy in 65.5% of patients (Vazquez et al, 1990) and damage to the seminiferous tubules as evident on biopsy specimens (Takeda and Ueda, 1977). In women, the correlation between fertility and MD remains unclear.…”

Section: Discussionmentioning

confidence: 99%

Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?

Feyereisen¹,

Amar²,

Kerbrat³

et al. 2005

Human Reproduction

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BACKGROUND: Myotonic dystrophy (MD) is characterized by myotonia, multisystemic lesions and hypogonadism.In women, the relationship between MD and infertility remains controversial. This study investigated the ovarian status and response to controlled ovarian stimulation (COS) in MD women entering our preimplantation genetic diagnosis programme. METHODS: We elected to compare MD patients with X-linked disorders (XLD) carriers, given that XLD have not been shown to affect ovarian status. On the one hand, we analysed all the cycles performed and, on the other hand, we conducted a subanalysis based on only first cycles. RESULTS: MD and XLD groups were similar with regard to women's ages, day 3 parameters, number of oocytes retrieved, embryos obtained and prevalence of top quality embryos. The day of HCG was significantly delayed and the prevalence of poor quality embryos was higher in the MD group. The subanalysis on first cycles only also showed significantly fewer mature follicles on the day of HCG in MD population. Implantation and pregnancy rates were similar in both groups; however, no pregnancy occurred at the first cycle in MD (0 out of 4), whereas 77% of pregnancies (10/13) occurred at the first attempt in XLD carriers. CONCLUSIONS: These results indicate that the responsiveness to COS was moderately hindered in MD women as compared to controls. Reassuring data about implantation and pregnancy rates support the feasibility of PGD in selected mildly affected MD women.

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Section: Discussionmentioning

confidence: 99%

Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?

Feyereisen¹,

Amar²,

Kerbrat³

et al. 2005

Human Reproduction

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“…Infertile DM patients present with testicular atrophy, loss of libido and of potency [183]. Comparing sperms´ capacitation and acrosome reactions in the ejaculates of infertile DM patients and healthy men by different diagnostic tools (like the Pisum sativum and D-mannose receptor expression assays), a complete lack of capacitation and acrosome reaction of sperms from the DM patients has been diagnosed [184]. These anomalies therefore most likely cause the infertility of DM patients.…”

Section: Dystrophica Myotonica (Dm) Locusmentioning

confidence: 99%

Molecular Genetic of Human Male Infertility: From Genes to New Therapeutic Perspectives

Vogt¹

2004

CPD

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Genetic lesions causing human male infertility are manifold. Besides gross chromosomal aneuploidies and rearrangements, microdeletions and single gene defects can interfere with male fertility. Male fertility is not only dependent on genes controlling the male germ line but also on genes of the networks functional for male gonad development and male somatic development, respectively. It is popular to unravel these netweorks with mouse gene knock-out mutants displaying reproductive defects. However, substantial arguments can be given for more functional studies directly on the human genes, because multiple reproductive proteins evolve quickly most likely for adopting to the specific needs of the species class. Prominent examples are mutations of the FSHR gene causing different pathologies in mouse and human and the DAZ gene family not found in the mouse genome but in the human genome with an essential male fertility function. Therefore this review is focussed on a comprehensive overview of human genes known with mutations causing male infertility (AR; AZF gene families; CFTR, DM-1, DNAH gene family, FGFR1, FSHR, INSL3, KAL-1, LGR8-GREAT, LHR, POLG). Then some human genes are described well recognised as functional in spermatogenesis and male fertility although gene specific mutations causing infertility were not yet identified (CREM, CDY1, DAZL1, PHGPx, PRM-1, PRM-2). They are designated as "spermatogenesis phase marker" or "male fertility index" genes, because they are useful tools for diagnosing the patient´s´ spermatogenesis disruption phase and for predicting the presence and quality of his mature sperms. Current therapeutic protocols for human male infertility do usually not cure the specific gene defect but try to bypass it using Artificial Reproductive Technology (ART). Putative imprinting defects in the early embryo probably associated with the used ART protocol and an increase of chromosome abnormalities in the ART offspring now strongly asks for a significant improvement of this outcome requesting urgently more basic research on the genes functioning in the human male germ line and during early human embryogenesis.

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“…A lack of association of DMPK genotype with fertility parameters is consistent with normal fertility for women carrying DMPK (CTG) 50 -150 repeats. 33,34 Although fertility can be compromised in males with mild or severe DM1, 16,35 the fathers in our study carried repeat sizes within the normal range, and therefore, no reduction in fertility due to (CTG) n repeat size would be expected in our study group.…”

Section: Discussionmentioning

confidence: 63%

Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos

et al. 2006

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One form of myotonic dystrophy, dystrophia myotonica 1 (DM1), is caused by the expansion of a (CTG) n repeat within the dystrophia myotonica-protein kinase (DMPK) gene located in chromosome region 19q13.3. Unaffected individuals carry alleles with repeat size (CTG) 5 -37 , premutation carriers (CTG) 38 -49 and DM1 affected individuals (CTG) 50 -6000 . Preferential transmission both of expanded repeats from DM1-affected parents and larger DMPK alleles in the normal-size range have been reported in live-born offspring. To determine the moment in development when transmission ratio distortion (TRD) for larger normal-size DMPK alleles is generated, the transmission from heterozygous parents with one repeat within the (CTG) 5 -18 range (Group I repeat) and the other within the (CTG) 19 -37 range (Group II repeat) to human preimplantation embryos was analysed. A statistically significant TRD of 59% (95% confidence interval of 54 -64) in favour of Group II repeats from both mothers and fathers was observed in preimplantation embryos, which remained significant when female embryos were considered separately. In contrast, no significant TRD was detected for repeats from informative Group I/Group I parents. Our analysis showed that Group II repeats specifically were preferentially transmitted in human preimplantation embryos. We suggest that TRD, in Group II repeats at the DMPK locus, is likely to result from events occurring at or around the time of fertilisation.

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Decreased sperm function of patients with myotonic muscular dystrophy

Cited by 31 publications

References 17 publications

Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?

Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?

Molecular Genetic of Human Male Infertility: From Genes to New Therapeutic Perspectives

Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos

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