Glycogen Branching Enzyme Deficiency (GBED)

INHALT

Synonym (en) Glycogen storage disease IV (GSD IV)
Amylopectinosis
Deutsch

Glykogen Branching Enzym Defizienz
Synonym (de) Glykogen-Branching–Enzym-Mangel
Französisch Déficience en enzyme branchante du glycogène

Gen

GBE1
Chromosom ECA26

OMIA#

OMIA 000420-9796

http://omia.angis.org.au/OMIA000420/9796/

NCBI gene

http://www.ncbi.nlm.nih.gov/gene/100034152

Mutation

102C>A base substitution in exon 1 of the GBE1 gene encoding glycogen branching enzyme, resulting in a Y34X nonsense mutation

(Ward TL et al. 2004)
Erbgang

Autosomal rezessiv
Merkmale / Symptome Störung des Glykogenstoffwechsels (Muskel, Herz, Gehirn) => Tod des Fohlens in den ersten Lebenswochen oder durch Abort
Belastungen

Erblich bedingte tiefgreifende Einschränkung einer Organfunktion (Glykogenmetabolismus); Abort, Tod des Fohlens, Euthanasie

Massgebende Kriterien für die Beurteilung der Belastungen sind insbesondere:

Zuchtstrategie und Massnahmen

Eltern

DNA-Untersuchung der ursächlichen Mutation (Ward TL et al. 2004); gezielte Anpaarungen, Anpassung der Zuchtstrategie (Trägertiere sollten in der Zucht nicht eingesetzt werden)

Betroffene Nachkommen

Diagnose (DNA-Test); Euthanasie
Rasse Quarter Horse (QH), Paint Horse (PH), Appaloosa, Kreuzungsprodukte
Trägerfrequenz (%) American QH 8.3%, Paint Horse 7.1% (Wagner, 2006). Western pleasure subgroups 13.2% (Tryon RC et al, 2009)
Gründer Nachkommen des Hengstes King P234 und seines Vaters Zantanon
DNA-Test (Allelen)

JA (Animal Genetics, CAG, Certagen, LABEO, LABOKLIN, PROGENUS, UC DAVIS,VetGen, VHL)

Patent: US 7129049 B2
Bemerkungen

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LITERATURVERZEICHNIS

Wissenschaftliche Veröffentlichungen

2015

(en) MICKELSON J R, VALBERG SJ. (2015). The Genetics of Skeletal Muscle Disorders in Horses. Annual Review of Animal Biosciences, 3(1): 197-217

  • DOI: 10.1146/annurev-animal-022114-110653
  • Annual Review of Animal Biosciences http://www.annualreviews.org/journal/animal
  • Abstract <http://www.annualreviews.org/doi/abs/10.1146/annurev-animal-022114-110653>
  • Pdf <http://www.annualreviews.org/doi/pdf/10.1146/annurev-animal-022114-110653>
  • [Stand: 25.09.2015]

2013

(en)  MICKELSON JR, VALBERG SJ, FINNO CJ, MCCUE ME. (2013). Genomics of muscle disorders. In Chowdhary BE, Equine Genomics. Wiley-Blackwell, pages 171-185

  • ISBN: 978-0-8138-1563-3
  • ISBN: 978-1-118-52212-7 (e-book)
  • Beschreibung, Inhalt, Autoren : WILEY http://eu.wiley.com/WileyCDA/ > Life Sciences > Genetics > Animal Genetics
  • html <http://eu.wiley.com/WileyCDA/WileyTitle/productCd-0813815630.html>
  • [Stand: 22.06.2014]

2010

(en) VALBERG SJ. (2010). Pursuing the Genetic Basis for Tying-Up Syndromes in Equine Breeds. Proceedings 17th Kentucky Equine Nutrition Conference 2010, 34-41

  • Pdf <http://www.ker.com/library/Proceedings/10/Pursuing%20the%20Genetic%20Basis%20for%20Tying-Up%20Syndromes.pdf>
  • [Stand: 22.09.2014]

2009

(en) TRYON RC, PENEDO MC, MCCUE ME, VALBERG SJ, MICKELSON JR, FAMULA TR, WAGNER ML, JACKSON M, HAMILTON MJ, NOOTEBOOM S, BANNASCH DL. (2009). Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses. Journal of the American Veterinary Medical Association, 234(1): 120-125

  • DOI: 10.2460/javma.234.1.120
  • Journal of the American Veterinary Medical Association http://avmajournals.avma.org/loi/javma
  • Abstract <http://avmajournals.avma.org/doi/abs/10.2460/javma.234.1.120>
  • [Stand: 22.09.2014]

2008

(en) ARNOLD H. (2008) Selecting against glycogen branching enzyme deficiency in Quarter Horses. Animal Science 314, Michigan State University, October 31, 2008

  • Pdf <https://www.msu.edu/~arnoldhe/pdfs/ans_314_gbed.pdf>
  • [Stand: 22.09.2014]

2006

(en) VALBERG SJ, MICKELSON JR. (2006). Glycogen-Branching Enzyme Deficiency. Proceedings 52 Annual Convention of the AAEP, 2006 - San Antonio, TX, USA, 52: 351-353

  • pdf <http://www.ivis.org/proceedings/aaep/2006/pdf/z9100106000351.pdf?origin=publication_detail>
  • [Stand: 22.09.2014]

(en) WAGNER ML, VALBERG SJ, AMES EG, BAUER MM, WISEMAN JA, PENEDO MC, KINDE H, ABBITT B, MICKELSON JR. (2006). Allele frequency and likely impact of the glycogen branching enzyme deficiency gene in Quarter Horse and Paint Horse populations. Journal of Veterinary Internal Medicine, 20 (5): 1207–1211

  • DOI: 10.1111/j.1939-1676.2006.tb00724.x
  • Journal of Veterinary Internal Medicine http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1939-1676
  • Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1939-1676.2006.tb00724.x/abstract>
  • Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1939-1676.2006.tb00724.x/pdf>
  • [Stand: 22.09.2014]

2004

(en) WARD TL, VALBERG SJ, ADELSON DL, ABBEY CA, BINNS MM, MICKELSON JR. (2004). Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. Mammalian Genome, 15(7): 570-577

<2004

(en) SPONSELLER BT, VALBERG SJ, WARD TL, FALES WILLIAMS AJ, MICKELSON J R. (2003). Muscular weakness and recumbency in a Quarter Horse colt due to glycogen branching enzyme deficiency. Equine Veterinary Education, 15(4): 182-187

  • DOI: 10.1111/j.2042-3292.2003.tb00240.x
  • Equine Veterinary Education http://onlinelibrary.wiley.com/journal/10.1001/(ISSN)2042-3292
  • Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.2042-3292.2003.tb00240.x/abstract>
  • Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.2042-3292.2003.tb00240.x/pdf>
  • [Stand: 22.09.2014]

(en) VALBERG SJ, WARD TL, RUSH B, KINDE H, HIRARAGI H, NAHEY D, FYFE J, MICKELSON JR. (2001). Glycogen branching enzyme deficiency in quarter horse foals. Journal of Veterinary Internal Medicine, 15(6): 572–580

  • DOI: 10.1111/j.1939-1676.2001.tb01593.x
  • Journal of Veterinary Internal Medicine http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1939-1676
  • Abstract < http://onlinelibrary.wiley.com/doi/10.1111/j.1939-1676.2001.tb01593.x/abstract >
  • Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1939-1676.2001.tb01593.x/pdf>
  • [Stand: 22.09.2014]

(en) WARD TL, VALBERG SJ, LEAR TL, GUÉRIN G, MILENKOVIC D, SWINBURNE JE, BINNS MM, RAUDSEPP T, SKOW L, CHOWDHARY BP, MICKELSON JR. (2003). Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses. Cytogenetic and Genome Research 102(1-4): 201-206.

Webseiten

(de) Deutsche Quarter Horse Association. GBED

(en) HorseDVM, Glycogen branching enzyme deficiency

(en) KALK K, SOMMARDAHL C. Muscle: glycogen branching enzyme deficiency (GBED). Vetstream Equis ISSN: 1757-8272, Vetstream, definitive veterinary intelligence

(en) Method of detecting equine glycogen storage disease IV. United States Patent US 7129049 B2. Inventors: Valberg Stephanie J. (Lino Lakes, MN), Mickelson James R. (Roseville, MN). Assignee: Regents of the University of Minnesota (Minneapolis, MN), Publication 23/06.2005

(en) VALBERG SJ, MICKELSON JR, College of Veterinary Medicine, University of Minnesota, St. Paul, Glycogen Branching Enzyme Deficiency (GBED) in Horses

Labore für DNA-Analytik

(en) Animal Genetics UK, Equine Genetic Disease Testing, Glycogen Branching Enzyme Deficiency (GBED)

(en) CAG GmbH - Center for Animal Genetics, Glycogen Storage Disease IV (GSD IV)

(en) Certagen GmbH - DNA tests genetic diseases, GBED Glycogen Branching Enzyme Deficiency

(fr) LABEO Laboratoire Frank Duncombe, 1 route du Rozel, 14053 Caen cedex

(en) LABOKLIN BASEL, Glycogen Branching Enzyme Deficiency (GBED)

(fr) LABOKLIN France, Glycogen Branching Enzyme Deficiency (GBED)

(en) PROGENUS, Horse/GBED

(en) UC DAVIS Veterinary Genetics Laboratory (VGL), Cerebellar Abiotrophy (CA)

(en) vetGen, GBED

(en) VHL, Van Haeringen Group, P791 Glycogen Branching Enzyme Deficiency (GBED)

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