Angelman Syndrome


New data from University of Connecticut illuminate research in Angelman syndrome genetics



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This article was published in Pain & Central Nervous System Week, which you can subscribe to online.
2007 MAY 21 -- Current study results from the report, "Molecular epigenetics of Angelman syndrome," have been published. "Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, ataxia, seizures, EEG abnormalities and bouts of inappropriate laughter. AS individuals fail to inherit a normal active maternal copy of ubiquitin protein ligase E3A (UBE3A)," scientists in the United States report.

"UBE3A is subject to genomic imprinting, with predominant transcription of the maternal allele in brain. The known genetic causes of AS are maternal deletion of chromosome 15q11-q13, paternal chromosome 15 uniparental disomy, UBE3A mutation and an abnormality of the imprinting process, termed imprinting defect," wrote M. Lalande and colleagues, University of Connecticut.

The researchers concluded: "There remain major questions concerning the molecular pathogenesis of AS, including: 1) the mechanisms underlying the imprinting defect class of AS, 2) the identity of proteins targeted by UBE3A, 3) the role of a noncoding antisense transcript in regulating UBE3A imprinting and 4) the contribution of other genes such as methyl-binding CpG-binding protein 2 and gamma-aminobutyric acid A receptor, subunit beta3 to the AS phenotype."

Lalande and colleagues published their study in Cellular and Molecular Life Sciences (Molecular epigenetics of Angelman syndrome. Cellular and Molecular Life Sciences, 2007;64(7-8):947-60).

For additional information, contact M. Lalande, University of Connecticut School of Medicine, Dept. of Genetics and Developmental Biology, Farmington, CT 06030-3301 USA.

The publisher's contact information for the journal Cellular and Molecular Life Sciences is: Birkhauser Verlag Ag, Viadukstrasse 40-44, PO Box 133, CH-4010 Basel, Switzerland.

Keywords: United States, Farmington, Angelman Syndrome Genetics, Angelman Syndrome, Cellular, Genetics, Neurology.

This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2007, Pain & Central Nervous System Week via NewsRx.com.