Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.

American Journal of Medical Genetics. Part a
Sarika U PetersCarlos A Bacino

Abstract

Angelman syndrome (AS) is caused by reduced or absent expression of the maternally inherited ubiquitin protein ligase 3A gene (UBE3A), which maps to chromosome 15q11-q13. UBE3A is subject to genomic imprinting in neurons in most regions of the brain. Expression of UBE3A from the maternal chromosome is essential to prevent AS, because the paternally inherited gene is not expressed, probably mediated by antisense UBE3A RNA. We hypothesized that increasing methylation might reduce expression of the antisense UBE3A RNA, thereby increasing UBE3A expression from the paternal gene and ameliorating the clinical phenotype. We conducted a trial using two dietary supplements, betaine and folic acid to promote global levels of methylation and attempt to activate the paternally inherited UBE3A gene. We performed a number of investigations at regular intervals including general clinical and developmental evaluations, biochemical determinations on blood and urine, and electroencephalographic studies. We report herein the data on 48 children with AS who were enrolled in a double-blind placebo-controlled protocol using betaine and folic acid for 1 year. There were no statistically significant changes between treated and untreated children; howe...Continue Reading

References

Oct 1, 1992·Annals of Neurology·R D NichollsE S Cantú
May 1, 1992·American Journal of Public Health·W C Willett
Jul 1, 1992·Journal of Child Neurology·R T ZoriC A Williams
Apr 1, 1982·American Journal of Medical Genetics·C A Williams, J L Frias
Dec 6, 1995·JAMA : the Journal of the American Medical Association·L E DalyJ M Scott
Mar 27, 1995·American Journal of Medical Genetics·C A WilliamsE M Whidden
Dec 1, 1993·International Journal of Pediatric Otorhinolaryngology·V L Smith, S E Gerber
Mar 1, 1993·American Journal of Medical Genetics·S B FreemanT J Hassold
Aug 1, 1995·Current Problems in Pediatrics·C A WilliamsD J Driscoll
Feb 1, 1996·Pediatric Neurology·S SteffenburgM Kyllerman
Jan 1, 1997·Nature Genetics·T KishinoJ Wagstaff
Sep 1, 1997·Nature Genetics·T H Vu, A R Hoffman
Sep 1, 1997·Nature Genetics·C RougeulleM Lalande
Nov 5, 1997·Journal of Public Health Medicine·G M SayersZ Johnson
Nov 20, 1997·Journal of Cellular Physiology·B Horsthemke
Jan 1, 1997·Human Mutation·B HorsthemkeK Buiting
Apr 29, 1998·American Journal of Medical Genetics·H J Stalker, C A Williams
Aug 5, 1998·Current Opinion in Genetics & Development·Y JiangA L Beaudet
Jun 12, 1999·American Journal of Human Genetics·Y JiangA L Beaudet
Mar 16, 2002·Neurobiology of Disease·Kiyonori MiuraJoseph Wagstaff
Aug 7, 2002·The Journal of Nutrition·Craig A CooneyGeorge L Wolff
May 6, 2003·Journal of Human Genetics·Akiko KashiwagiMitsuo Oshimura
Sep 25, 2004·American Journal of Medical Genetics. Part a·Yong-Hui JiangArthur L Beaudet
Nov 4, 2004·Clinical Genetics·S U PetersC A Bacino
Dec 8, 2004·Advances in Enzyme Regulation·Lori M SteadJohn T Brosnan
Feb 14, 2006·American Journal of Medical Genetics. Part a·Charles A WilliamsJoseph Wagstaff
Feb 20, 2009·Journal of Child Neurology·Daniel G GlazeE O'Brian Smith

❮ Previous
Next ❯

Citations

Oct 23, 2013·Trends in Molecular Medicine·Irfan A Qureshi, Mark F Mehler
Dec 23, 2011·Nature·Hsien-Sung HuangBenjamin D Philpot
Jul 26, 2012·Neural Plasticity·Nihar Ranjan Jana
Nov 13, 2015·Expert Opinion on Therapeutic Targets·Xiaoning BiMichel Baudry
Jan 14, 2016·Wiener medizinische Wochenschrift·Wen-Hann Tan, Lynne M Bird
Apr 13, 2011·Journal of Neurodevelopmental Disorders·Benjamin D PhilpotCharles A Williams
Oct 18, 2011·American Journal of Medical Genetics. Part a·Lynne M BirdArthur L Beaudet
Jun 5, 2015·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Seth S MargolisLynne M Bird
May 20, 2011·Trends in Neurosciences·Angela M MabbBenjamin D Philpot
Oct 20, 2015·Clinical Anatomy : Official Journal of the American Association of Clinical Anatomists & the British Association of Clinical Anatomists·Rohit SachdevaSoo Y Kim
Dec 19, 2016·Journal of Applied Research in Intellectual Disabilities : JARID·Joseph C GriecoEdwin J Weeber
Nov 20, 2016·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Wen-Hann Tan, Lynne M Bird
Feb 23, 2020·The FEBS Journal·Carina MarangaSimão Teixeira da Rocha
Jan 19, 2016·Current Opinion in Psychiatry·Na Young Ji, Robert L Findling
Oct 24, 2019·Orphanet Journal of Rare Diseases·Julia HanVirginia Kimonis
May 28, 2019·Journal of Intellectual Disability Research : JIDR·A C WheelerR B Christian
Sep 17, 2021·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Nycole A CoppingJill L Silverman

❮ Previous
Next ❯

Related Concepts

Related Feeds

Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.

Related Papers

Journal of Developmental and Behavioral Pediatrics : JDBP
Michael FreilingerOlaf A Bodamer
Seizure : the Journal of the British Epilepsy Association
Karine PelcBernard Dan
Epigenetics : Official Journal of the DNA Methylation Society
Erbo DongAlessandro Guidotti
© 2021 Meta ULC. All rights reserved