Glycogen storage disease type I historical perspective: Difference between revisions
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*In 1993, Brody et al. located the gene encoding the catalytic unit of the glucose-6-phosphatase complex on chromosome 17q21.<ref name="pmid7774924">{{cite journal| author=Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G et al.| title=Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17. | journal=Genomics | year= 1995 | volume= 25 | issue= 1 | pages= 238-47 | pmid=7774924 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7774924 }} </ref> | *In 1993, Brody et al. located the gene encoding the catalytic unit of the glucose-6-phosphatase complex on chromosome 17q21.<ref name="pmid7774924">{{cite journal| author=Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G et al.| title=Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17. | journal=Genomics | year= 1995 | volume= 25 | issue= 1 | pages= 238-47 | pmid=7774924 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7774924 }} </ref> | ||
*In the same year, Lei et al. identified the mutations causing glycogen storage disease type 1a by cloning human glucose-6-phosphatase gene.<ref name="pmid7573034">{{cite journal| author=Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A et al.| title=Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. | journal=Am J Hum Genet | year= 1995 | volume= 57 | issue= 4 | pages= 766-71 | pmid=7573034 | doi= | pmc=1801521 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7573034 }} </ref> | *In the same year, Lei et al. identified the mutations causing glycogen storage disease type 1a by cloning human glucose-6-phosphatase gene.<ref name="pmid7573034">{{cite journal| author=Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A et al.| title=Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. | journal=Am J Hum Genet | year= 1995 | volume= 57 | issue= 4 | pages= 766-71 | pmid=7573034 | doi= | pmc=1801521 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7573034 }} </ref> | ||
*In 1998, Annabi et al. located the gene responsible for glycogen storage disease type Ib through y linkage analysis to chromosome 11q23.<ref name="pmid9463334">{{cite journal| author=Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH et al.| title=The gene for glycogen-storage disease type 1b maps to chromosome 11q23. | journal=Am J Hum Genet | year= 1998 | volume= 62 | issue= 2 | pages= 400-5 | pmid=9463334 | doi=10.1086/301727 | pmc=1376902 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9463334 }} </ref> | |||
===Impact on Cultural History=== | ===Impact on Cultural History=== | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
In 1952, Gerty T. Cori and Carl F. Cori were the first to discover the association between deficiency of glucose-6-phosphatase and glycogen storage disease type I (GSD-1).
Historical Perspective
Discovery
- In 1929, Von Gierke was the first to describe live glycogen storage disease in a 8 year old girl.[1]
- In 1952, Gerty T. Cori and Carl F. Cori were the first to discover the association between deficiency of glucose-6-phosphatase and glycogen storage disease type Ia (GSD-1a).[2]
- In 1978, Narisawa et al. suggested that a defect in microsomal transport system of glucose-6-phosphate may cause a new variant known as glycogen storage disease type Ib (GSD-1b).[3]
- In 1993, Brody et al. located the gene encoding the catalytic unit of the glucose-6-phosphatase complex on chromosome 17q21.[4]
- In the same year, Lei et al. identified the mutations causing glycogen storage disease type 1a by cloning human glucose-6-phosphatase gene.[5]
- In 1998, Annabi et al. located the gene responsible for glycogen storage disease type Ib through y linkage analysis to chromosome 11q23.[6]
Impact on Cultural History
- Glucose-6-phosphatase deficiency in GSD-1 is identified as first specific enzymopathy in a hereditary disorder.[7]
References
- ↑ Gierke E, Von (1929). "Hepato-nephro-megalia-glycogenica". Beitr Pathol Anat. 82: 497–513.
- ↑ CORI GT, CORI CF (1952). "Glucose-6-phosphatase of the liver in glycogen storage disease". J Biol Chem. 199 (2): 661–7. PMID 13022673.
- ↑ Igarashi Y, Otomo H, Narisawa K, Tada K (1980). "A new variant of glycogen storage disease type 1: probably due to a defect in the glucose-6-phosphate transport system". J Inherit Metab Dis. 2 (3): 45–9. PMID 6273650.
- ↑ Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G; et al. (1995). "Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17". Genomics. 25 (1): 238–47. PMID 7774924.
- ↑ Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A; et al. (1995). "Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus". Am J Hum Genet. 57 (4): 766–71. PMC 1801521. PMID 7573034.
- ↑ Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH; et al. (1998). "The gene for glycogen-storage disease type 1b maps to chromosome 11q23". Am J Hum Genet. 62 (2): 400–5. doi:10.1086/301727. PMC 1376902. PMID 9463334.
- ↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.