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Start Over Author "DE FUSCO M" Journal nature genetics
3 results on '"DE FUSCO M"'

1. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

Author

Luigia Atorino, Letterio Morgante, Andrea Ballabio, Maurizio De Fusco, Paolo Aridon, Laura Silvestri, Luca Rampoldi, Roberto Marconi, Giorgio Casari, De Fusco, M, Marconi, R, Silvestri, L, Atorino, L, Rampoldi, L, Morgante, L, Ballabio, A, Aridon, P, and Casari, GIORGIO NEVIO

Subjects
Male, medicine.medical_specialty, Aura, Cell Survival, Population, Migraine with Aura, Molecular Sequence Data, Drug Resistance, Biology, Haploidy, Transfection, ATP1A2, Internal medicine, ATP1A3, Chlorocebus aethiops, Genetics, medicine, Animals, Humans, Enzyme Inhibitors, education, Ouabain, Familial hemiplegic migraine, Chromatography, High Pressure Liquid, education.field_of_study, Base Sequence, medicine.disease, Migraine with aura, Peptide Fragments, Pedigree, Endocrinology, Migraine, Chromosomes, Human, Pair 1, Case-Control Studies, COS Cells, Mutation, Mutagenesis, Site-Directed, Female, Calcium Channels, medicine.symptom, Sodium-Potassium-Exchanging ATPase, Haploinsufficiency, HeLa Cells
Abstract

Headache attacks and autonomic dysfunctions characterize migraine, a very common, disabling disorder with a prevalence of 12% in the general population of Western countries(1,2). About 20% of individuals affected with migraine experience aura, a visual or sensory-motor neurological dysfunction that usually precedes or accompanies the headache(3). Although the mode of transmission is controversial(4), population-based and twin studies have implicated genetic factors, especially in migraine with aura(5,6). Familial hemiplegic migraine is a hereditary form of migraine characterized by aura and some hemiparesis. Here we show that mutations in the gene ATP1A2 that encodes the alpha2 subunit of the Na+/K+ pump are associated with familial hemiplegic migraine type 2 (FHM2) linked to chromosome 1q23 (OMIM 602481). Functional data indicate that the putative pathogenetic mechanism is triggered by a loss of function of a single allele of ATP1A2. This is the first report associating mutations of Na+K+ pump subunits to genetic diseases.

Published
2002

2. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.

Author

De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, and Casari G

Subjects
Animals, Base Sequence, COS Cells, Calcium Channels genetics, Case-Control Studies, Cell Survival drug effects, Chlorocebus aethiops, Chromatography, High Pressure Liquid, Chromosomes, Human, Pair 1 genetics, Drug Resistance, Enzyme Inhibitors pharmacology, Female, Haploidy, HeLa Cells, Humans, Male, Molecular Sequence Data, Mutagenesis, Site-Directed, Ouabain pharmacology, Pedigree, Peptide Fragments, Sodium-Potassium-Exchanging ATPase metabolism, Transfection, Migraine with Aura enzymology, Migraine with Aura genetics, Mutation, Sodium-Potassium-Exchanging ATPase genetics
Abstract

Headache attacks and autonomic dysfunctions characterize migraine, a very common, disabling disorder with a prevalence of 12% in the general population of Western countries. About 20% of individuals affected with migraine experience aura, a visual or sensory-motor neurological dysfunction that usually precedes or accompanies the headache. Although the mode of transmission is controversial, population-based and twin studies have implicated genetic factors, especially in migraine with aura. Familial hemiplegic migraine is a hereditary form of migraine characterized by aura and some hemiparesis. Here we show that mutations in the gene ATP1A2 that encodes the alpha2 subunit of the Na+/K+ pump are associated with familial hemiplegic migraine type 2 (FHM2) linked to chromosome 1q23 (OMIM 602481). Functional data indicate that the putative pathogenetic mechanism is triggered by a loss of function of a single allele of ATP1A2. This is the first report associating mutations of Na+K+ pump subunits to genetic diseases.

Published
2003
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3. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.

Author

De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, and Casari G

Subjects
Amino Acid Substitution, Animals, Circadian Rhythm, Epilepsies, Partial metabolism, Exons genetics, Female, Genes, Dominant, Genetic Heterogeneity, Humans, Ion Channel Gating genetics, Ion Transport, Male, Mice, Mice, Neurologic Mutants, Nerve Tissue Proteins chemistry, Nerve Tissue Proteins deficiency, Nicotine pharmacology, Pedigree, Phenotype, Protein Subunits, Receptors, Nicotinic chemistry, Receptors, Nicotinic deficiency, Receptors, Nicotinic drug effects, Structure-Activity Relationship, Epilepsies, Partial genetics, Frontal Lobe physiopathology, Mutation, Missense, Nerve Tissue Proteins genetics, Receptors, Nicotinic genetics
Abstract

Clustered attacks of epileptic episodes originating from the frontal lobe during sleep are the main symptoms of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE, MIM 600513). Despite the clinical homogeneity, three forms of ADNFLE have been associated with chromosomes 20 (ENFL1; ref. 1), 15 (ENFL2; ref. 2) and 1 (ENFL3; ref. 3). Mutations of the gene encoding the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4 ) have been found in ADNFLE-ENFL1 families, but these mutations account for only a small proportion of ADNFLE cases. The newly identified locus associated with ENFL3 harbours several candidate genes, including CHRNB2 (ref. 8), whose gene product, the beta 2 nicotinic acetylcholine receptor (nAChR) subunit, co-assembles with the alpha 4 nAChR subunit to form the active receptor.

Published
2000
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