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2 results on '"Non-Receptor, Protein Tyrosine Phosphatases"'

1. Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters

Author

C. Sarappa, Vacca G, Fausto Barbieri, P. Boccella, Salvatore Striano, Federico Zara, F.A. de Falco, Pasquale Striano, Boccella, P, Striano, P, Zara, F, Barbieri, F, Sarappa, C, Vacca, G, DE FALCO, Fa, and Striano, Salvatore

Subjects
Pathology, Biopsy, Epilepsy, genetics, Non-Receptor, Evoked Potentials, Skin, Cerebral Cortex, Genetic Carrier Screening, Electroencephalography, General Medicine, Protein Tyrosine Phosphatases, Non-Receptor, Lafora Disease, Chromosomes, Human, Pair 6, Female, Pair 6, medicine.symptom, Laforin, Human, Adult, medicine.medical_specialty, Cerebral, Ataxia, Ubiquitin-Protein Ligases, diagnosis/genetics/pathology/physiopathology, Progressive myoclonus epilepsy, Heterozygote Detection, Chromosomes, Lafora disease, Genetic Heterogeneity, medicine, Humans, Point Mutation, Dominance, Cerebral, Dominance, Genetic heterogeneity, business.industry, Electromyography, Adult, Biopsy, Carrier Proteins, genetics, Cerebral Cortex, physiopathology, Chromosomes, Pair 6, Dominance, physiology, Electroencephalography, Electromyography, Evoked Potentials, physiology, Female, Genetic Heterogeneity, Heterozygote Detection, Humans, Lafora Disease, diagnosis/genetics/pathology/physiopathology, Point Mutation, Protein Tyrosine Phosphatases, Non-Receptor, Protein Tyrosine Phosphatases, genetics, Skin, pathology, medicine.disease, physiology, Myoclonic epilepsy, Surgery, Neurology (clinical), physiopathology, Protein Tyrosine Phosphatases, business, Carrier Proteins, Myoclonus
Abstract

Lafora disease (LD) is an autosomal recessive inherited form of progressive myoclonic epilepsy with dementia and ataxia, usually presenting in the second decade of life and inexorably progressing until death. Neuropathological hallmarks are Lafora bodies, intracytoplasmic inclusions that can be found in neurons and in other tissues. LD gene (EPM2A), mapping on chromosome 6, encodes for a tyrosine phosphatase protein called laforin. However, up to 20% cases of LD are not genetically linked to chromosome 6. We report two sisters affected from bioptically diagnosed LD but without evidence of EPM2A mutation. Although familial cases of LD are already reported in literature, our observation leads to some considerations on clinical-electrophysiological evolution as well as to remark the genetic heterogeneity of this condition. In addition, we report the good effect of the Levetiracetam for the treatment of myoclonus in these patients, also demonstrated by the electrophysiological findings.

Published
2003

2. Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B

Author

Leila Romio, Chiara Cecchi, Antonio Leoni, Marco Di Duca, Alessandra Bolino, Valeria Marigo, Roberto Ravazzolo, Anthony P. Monaco, Francesca Ferrera, Maria Laura Feltri, Lawrence Wrabetz, Roberta Cinti, and Julie Loader

Subjects
Untranslated region, Myotubularin, Messenger, genetics/metabolism, Sequence Homology, Gene Expression, medicine.disease_cause, Exon, Mice, Charcot-Marie-Tooth Disease, Complementary, genetics, Developmental, Non-Receptor, Cloning, Molecular, In Situ Hybridization, In Situ Hybridization, Fluorescence, Genetics, Mutation, medicine.diagnostic_test, Chromosome Mapping, Gene Expression Regulation, Developmental, General Medicine, Protein Tyrosine Phosphatases, Non-Receptor, Amino Acid Sequence, Animals, Base Sequence, Charcot-Marie-Tooth Disease, genetics, Chromosome Mapping, Cloning, Molecular, DNA, chemistry/genetics, Embryo, Mammalian, metabolism, Gene Expression, Gene Expression Regulation, Developmental, Genes, genetics, Humans, In Situ Hybridization, In Situ Hybridization, Fluorescence, Liver, metabolism, Mice, Molecular Sequence Data, Mutation, Peripheral Nerves, metabolism, Protein Tyrosine Phosphatases, Non-Receptor, Protein Tyrosine Phosphatases, genetics, RNA, genetics/metabolism, Sequence Alignment, Sequence Analysis, DNA, Sequence Homology, Amino Acid, Liver, Embryo, Sequence Analysis, DNA, Complementary, Charcot-Marie-Tooth tipo 4B, malattia genetica, espressione in situ, Molecular Sequence Data, Chromosome 9, Biology, Fluorescence, medicine, Animals, Humans, Amino Acid Sequence, Peripheral Nerves, RNA, Messenger, Gene, Base Sequence, Sequence Homology, Amino Acid, Molecular, DNA, Sequence Analysis, DNA, Embryo, Mammalian, Molecular biology, Open reading frame, Gene Expression Regulation, Genes, chemistry/genetics, RNA, Protein Tyrosine Phosphatases, metabolism, Sequence Alignment, Fluorescence in situ hybridization, Cloning
Abstract

Charcot-Marie-Tooth type 4B (CMT4B) is caused by mutations in the myotubularin-related 2 gene, MTMR2, on chromosome 11q22. To date, six loss of function mutations and one missense mutation have been demonstrated in CMT4B patients. It remains to be determined how dysfunction of a ubiquitously expressed phosphatase causes a demyelinating neuropathy. An animal model for CMT4B would provide insights into the pathogenesis of this disorder. We have therefore characterized the mouse homologue of MTMR2 by reconstructing the full-length Mtmr2 cDNA as well as the genomic structure. The 1932 nucleotide open reading frame corresponds to 15 coding exons, spanning a genomic region of approximately 55 kilobases, on mouse chromosome 9 as demonstrated by fluorescence in situ hybridization analysis. A comparison between the mouse and human genes revealed a similar genomic structure, except for the number of alternatively spliced exons in the 5'-untranslated region, two in mouse and three in man. In situ hybridization analysis of mouse embryos showed that Mtmr2 was ubiquitously expressed during organogenesis at E9.5, with some areas of enriched expression. At E14.5, Mtmr2 mRNA was more abundant in the peripheral nervous system, including in dorsal root ganglia and spinal roots.

Published
2002

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