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Castiglioni C.,Unit of Neurology | Lopez I.,Unit of Neurology | Riant F.,Laboratoire Of Genetique Moleculaire | Bertini E.,Bambino Gesu Childrens Research Hospital IRCCS | Terracciano A.,Bambino Gesu Childrens Research Hospital IRCCS
European Journal of Paediatric Neurology | Year: 2013

PRRT2 gene mutations have recently been identified as a causative gene of Paroxysmal kinesigenic dyskinesia (PKD), a rare movement disorder characterised by the occurrence of chorea, dystonia or athetosis triggered by sudden action. Some patients have additional intermittent neurologic disorders like infantile convulsions. The association with migraine has been rarely reported in this condition. Here we report the coexistence of PKD and hemiplegic migraine in twins harbouring a heterozygous mutation in PRRT2. Two monozygotic twins manifesting PKD together with repeated episodes of migraine with some severe attacks of hemiplegic migraine have been followed and treated for more than 10 years. Molecular genetic analysis disclosed the c.649-650insC, p.R217Pfs*8 heterozygous mutation in both twins. This mutation was segregating from the mother who likewise harboured the same mutation c.649dupC although she had never manifested PKD but complained of rare common migraine attacks in her past history. The association of PKD and hemiplegic migraine has been previously reported in one large family, associated to febrile convulsions and afebrile seizures in some individuals, but our report relates this association of symptoms to a mutation in PRRT2. The co-occurrence of both hemiplegic migraine and PKD in monozygotic twins expands the phenotypic spectrum of intermittent manifestations related to PRRT2 and perhaps suggests an additional causing gene for hemiplegic migraine. © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. Source


Al-Aama J.Y.,King Abdulaziz University | Al-Ghamdi S.,Prince Sultan Cardiac Center | Bdier A.Y.,King Abdulaziz University | Wilde A.A.M.,King Abdulaziz University | And 2 more authors.
Clinical Genetics | Year: 2014

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive disorder, clinically characterized by severe cardiac arrhythmias [due to prolonged QTc interval in electrocardiogram (ECG)] and bilateral sensory neural deafness. Molecular defects causal to JLNS are either homozygous or compound heterozygous mutations, predominantly in the KCNQ1 gene and occasionally in the KCNE1 gene. As the molecular defect is bi-allelic, JLNS patients inherit one pathogenic mutation causal to the disorder from each parent. In this report, we show for the first time that such a disorder could also occur due to a spontaneous de novo mutation in the affected individual, not inherited from the parent, which makes this case unique unlike the previously reported JLNS cases. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. Source


Petit F.M.,Laboratoire Of Genetique Moleculaire | Serres C.,University of Paris Descartes | Bourgeon F.,French Institute of Health and Medical Research | Pineau C.,French Institute of Health and Medical Research | Auer J.,University of Paris Descartes
Human Reproduction | Year: 2013

STUDY QUESTION: Which human sperm proteins interact with zona pellucida (ZP) glycoproteins, ZPA/2, ZPB/4 and ZPC/3?SUMMARY ANSWERCo-precipitation experiments with recombinant human ZP (rhZP) coated beads demonstrated interactions with various proteins, including glutathione S-transferase M3 (GSTM) with ZPB/4 and voltage-dependent anion channel 2 (VDAC2) with ZPA/2 and ZPC/3.WHAT IS KNOWN ALREADYRegarding sperm-ZP binding, several target spot/proteins have been detected in several species, but not all have been characterized. The limit of these studies was that a mixture of the different ZP glycoproteins was used and did not allow the identification of the specific ZP glycoprotein (ZPA/2, ZPC/3 or ZPB/4) involved in the interaction with the sperm proteins.STUDY DESIGN, SIZE, DURATIONTo identify the human sperm proteins interacting with the oocyte ZP, we combined two approaches: immunoblot of human spermatozoa targeted by antisperm antibodies (ASAs) from infertile men and far western blot of human sperm proteins overlayd by each of the rhZP proteins.MATERIALS, SETTING, METHODSWe used rhZP expressed in Chinese hamster ovary (CHO) cells and ASA eluted from infertile patients undergoing IVF failure. Sperm proteins separated by two-dimensional (2D) electrophoresis recognized by both sperm-eluted ASAs from infertile patients and rhZP were identified by mass spectrometry (MALDI-MS/MS). Some of these proteins were further validated by co-precipitation experiments with rhZP and functional zona binding tests. MAIN RESULTS AND THE ROLE OF CHANCE: We identified proteins that are glycolytic enzymes such as pyruvate kinase 3, enolase 1, glyceraldehyde-3-phosphate dehydrogenase, aldolase A, triosephosphate isomerase, detoxification enzymes such as GSTM or phospholipid hydroperoxide glutathione peroxidase, ion channels such as VDAC2 and structural proteins such as outer dense fibre 2. Several of the proteins were localized on the sperm head. However, these proteins have also been described to exert other functions in the flagellum. Co-precipitation experiments with rhZP-coated beads confirmed the direct interaction of GSTM with ZP4 and of VDAC2 with ZP2 and ZP3. LIMITATIONS, REASONS FOR CAUTION: We used recombinant ZP in place of native ZP. Thus, the post-translational modifications of the proteins, such as glycosylations, can be different and can influence their function. However, CHO cell-expressed rhZP are functional, e.g. can bind human spermatozoa and induce the acrosome reaction. Moreover, the identification of relevant proteins was limited by the need for sufficient amounts of proteins on the preparative 2D-gel to be subsequently analysed in MALDI-TOF MS/MS. WIDER IMPLICATIONS OF THE FINDINGS: Our results bring new insights on the ability of sperm proteins to exert several functions depending on their sub-cellular localization, either the head or flagellum. Their multiple roles suggest that these sperm proteins are multifaceted or moonlighting proteins. STUDY FUNDING/COMPETING INTEREST(S): This work was supported by the grant ReproRio (CNRS, INRA, INSERM and CEA) and the Société d'Andrologie de Langue Française.Trial registration numberNot applicable. © 2013 The Author. Source


Patent
Institute Of Recherche Pour Le Development Ird and Laboratoire Of Genetique Moleculaire | Date: 2013-07-18

The present invention relates to molecular markers and to the use thereof for distinguishing male date palm plants from female date palm plants. The invention also relates to a method for identifying the sex of date palm plants using these molecular markers, and to a kit for carrying out the method.


Soufir J.-C.,Groupe Hospitalier Cochin | Meduri G.,Laboratoire Of Genetique Moleculaire | Ziyyat A.,Groupe Hospitalier Cochin | Ziyyat A.,University of Paris Descartes
Human Reproduction | Year: 2011

Background: We previously demonstrated in a small pilot study that oral medroxyprogesterone acetate and percutaneous testosterone (OMP/PT) induce reversible spermatogenesis suppression. The aims of this study were to determine the rate of spermatogenetic inhibition and recovery and to obtain preliminary data on efficacy for a larger population under OMP/PT. Methods: A total of 35 healthy men with normal spermiograms requesting male hormonal contraception were treated with OMP (20 mg/day) and PT (50125 mg/day) for periods up to 18 months. Couples were included in a contraceptive efficacy phase after a value of ≤1 million/ml spermatozoa was reached between 1 and 3 months of treatment. Results: Sperm counts decreased by 47 at 1 month, reaching 90 at 2 months and 98100 between 4 and 8 months. At 3 months, 80 of men had ≤1 million/ml spermatozoa. Follicle-stimulating hormone and luteinizing hormone decreased to 35 of pretreatment levels after 1 month of treatment and to 7580 at 2 and 6 months, respectively. Plasma testosterone and estradiol levels were in the eugonadal range at 3, 6, 9 and 12 months of treatment. Dihydrotestosterone concentrations were 24 times higher than pretreatment values. The rate of spermatogenetic recovery was rapid (73 ± 29.5 days). During the efficacy phase (211 months for 25 couples), one pregnancy attributable to poor compliance of the male partner was observed. Conclusions: OMP/PT efficiently inhibits spermatogenesis in 80 of men, maintains testosterone at physiological levels and avoids the need for parenteral administration, which is poorly accepted by French men. These Results: justify larger studies to define a more adequate dosage of OMP/PT and to confirm its efficacy and safety. © 2011 The Author. Source

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