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Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

世界最新医学信息文摘 2015年第5期 6-6页

作者： Philippe Couarch Santiago Vernia Isabelle Gourfinkel-An Ga tan Lesca Svetlana Gataullina Estelle Fedirko Oriane Trouillard Christel Depienne olivier dulac Dominique Steschenko Eric Leguern Pascual Sanz Stéphanie Baulac

Lafora disease is a fatal autosomal recessive formof progressive myoclonus epilepsy. Patients manifest myoclonus and tonic–clonic seizures, visual hallucinations, intellectual, and progressive neurologic deterioration beginning in *** two genes known to be involved in Lafora disease are EPM2 A and NHLRC1(EPM2B). The EPM2 A gene encodes laforin,a dual-specificity protein phosphatase, and the NHLRC1 gene encodes malin, an E3-ubiquitin ligase. The two proteins interact with each other and, as a complex, are thought to regulate glycogen synthesis. Here, we report three Lafora families with two novel pathogenic mutations(C46Y and L261P) and two recurrent mutations(P69A and D146N) in NHLRC1. Investigation of their functional consequences in cultured mammalian cells revealed that malin C46 Y, malin P69 A, malin D146 N, and malin L261 P mutants failed to downregulate the level of R5/PTG, a regulatory subunit of protein phosphatase 1 involved in glycogen synthesis. Abnormal accumulation of intracellular glycogen was observed with all malin mutants, reminiscent of the polyglucosan inclusions(Lafora bodies) present in patients with Lafora disease.

关键词： Epilepsy Mendelian disorder Genetics Autosomal recessive

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Preliminary Study on Geographical Variation of Cytochrome b gene and ITS2-rDNA among Populations of Rhynchophorus ferrugineus

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Journal of Agricultural Science and Technology(B) 2011年第2期1卷 189-197页

作者： R. A. A. M. EI-Mergawy A. M. A1 Ajlan N. Abdalla V. Vassiliou C. Capdevielle-dulac D.C.Kontodimas J. F. Silvain M. I. Nasr IRD UR 072 Laboratoire Evolution Gdnomes et Spdciation UPR 9034 CNRS Gif-sur-Yvette 91198 France Department of Molecular Biology Genetic Engineering and Biotechnology Research Institute （GEBRI） Minoufyia UniversityEl-Sadat City Minoufyia Egypt Department of Arid Land Agriculture College of Agriculture ＆ Food Sciences King Faisal University PO Box 55009 Hofuf31982 Kingdom of Saudi Arabia Department of Genetics Faculty of Agriculture Cairo University Egypt Agricultural Research Institute P. O. Box 22016 1516 Nicosia Cyprus Benaki Phytopathological Institute P. O. Box 51214 Kiffissia Greece Universite Paris-Sud 11 Orsay Cedex 91405 France

The Red Palm Weevil （RPW）, Rhynchophorus ferrugineus （olivier）, （Coleoptera, Curculionidae, Rhynchophorinae）, is an invasive species that is originated from Southeast Asia. It has invaded Middle East, several countries of the Mediterranean Basin, Caribbean （Island of Curacao, Netherland Antilles）, Lebanon and United States of America （Laguna Beach, Orange County, California） during the last three decades where it attacks palm trees. This study investigated the geographical variation among geographic populations of RPW collected from twelve invaded countries using cytochrome b （Cytb） and ITS2 partial sequences. The comparison among the Cytb sequences resulted in three different haplotypes designated as HB 1 to HB3. The three haplotypes were subdivided into two phylogenetic groups according to their geographic positions：（1） the ＂Multi-Continent＂ group containing HB 1 haplotype detected in eight populations belonging to three different Continents such as Africa-Egypt, Asia-Kingdom of Saudi Arabia and Turkey and Europe-Spain, Italy, Greece, Cyprus and France, and （2） the ＂Asian＂ group includes four populations from Iran （harboring HB2 haplotype）, Pakistan, UAE, and Oman （harboring HB3 haplotype）. This mitochondrial pattern of genetic diversity suggests that the tested RPW populations subdivided genetically into different sub-populations under the influence of genetic drift. According to these results we concluded that the twelve studied RPW populations are originating from different source populations in the RPW area of origin.

关键词： Cytochrome b ITS2 Red Palm Weevil invasive species geographical variation.

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