File Download
  Links for fulltext
     (May Require Subscription)
Supplementary

Article: SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants

TitleSOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants
Authors
KeywordsColon
Enteric nervous system
Hirschsprung's disease
Neurocristopathy
Polymorphism
SOX10
Issue Date2001
PublisherBMJ Publishing Group. The Journal's web site is located at http://gut.bmjjournals.com/
Citation
Gut, 2001, v. 49 n. 2, p. 220-226 How to Cite?
AbstractBackground - The primary pathology of Hirschsprung's disease (HD) is a congenital absence of ganglion cells in the caudal most gut. The spastic aganglionic bowel is often innervated by a network of hypertrophied nerve fibres. Recently, mutations of SOX10 have been identified in patients with HD but only in those with Waardenburg-Shah syndrome. Aims - To understand the molecular basis for the pathogenesis of HD we intended to determine the specific cell lineages in the enteric nervous system which normally express SOX10 but are affected in disease conditions. Methods - We studied colon biopsies from 10 non-syndromic HD patients, aged three months to four years, and 10 age matched patients without HD as normal controls. The absence of mutation in the SOX10 gene of HD patients was confirmed by DNA sequencing. Expression and cellular distribution of SOX10 in bowel segments of normal and HD infants were examined by reverse transcription-polymerase chain reaction and in situ hybridisation. Results - We found that in normal infants and normoganglionic bowel segments of HD patients, SOX10 was expressed in both neurones and glia of the enteric plexuses and in the nerves among the musculature in normal colon. In the aganglionic bowel segments of patients, SOX10 expression was consistently lower and was found to be associated with the hypertrophic nerve trunks in the muscle and extrinsic nerves in the serosa. Conclusion - We conclude that SOX10 is normally required postnatally in the functional maintenance of the entire enteric nervous system, including neurones and glia. In non-syndromic HD patients who do not have the SOX10 mutation, the SOX10 gene expressed in the sacral region may be involved in the pathogenesis of the abnormal nerve trunks through interaction with other factors.
Persistent Identifierhttp://hdl.handle.net/10722/42614
ISSN
2015 Impact Factor: 14.921
2015 SCImago Journal Rankings: 6.474
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorSham, MHen_HK
dc.contributor.authorLui, VCHen_HK
dc.contributor.authorFu, Men_HK
dc.contributor.authorChen, Ben_HK
dc.contributor.authorTam, PKHen_HK
dc.date.accessioned2007-03-23T04:27:52Z-
dc.date.available2007-03-23T04:27:52Z-
dc.date.issued2001en_HK
dc.identifier.citationGut, 2001, v. 49 n. 2, p. 220-226en_HK
dc.identifier.issn0017-5749en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42614-
dc.description.abstractBackground - The primary pathology of Hirschsprung's disease (HD) is a congenital absence of ganglion cells in the caudal most gut. The spastic aganglionic bowel is often innervated by a network of hypertrophied nerve fibres. Recently, mutations of SOX10 have been identified in patients with HD but only in those with Waardenburg-Shah syndrome. Aims - To understand the molecular basis for the pathogenesis of HD we intended to determine the specific cell lineages in the enteric nervous system which normally express SOX10 but are affected in disease conditions. Methods - We studied colon biopsies from 10 non-syndromic HD patients, aged three months to four years, and 10 age matched patients without HD as normal controls. The absence of mutation in the SOX10 gene of HD patients was confirmed by DNA sequencing. Expression and cellular distribution of SOX10 in bowel segments of normal and HD infants were examined by reverse transcription-polymerase chain reaction and in situ hybridisation. Results - We found that in normal infants and normoganglionic bowel segments of HD patients, SOX10 was expressed in both neurones and glia of the enteric plexuses and in the nerves among the musculature in normal colon. In the aganglionic bowel segments of patients, SOX10 expression was consistently lower and was found to be associated with the hypertrophic nerve trunks in the muscle and extrinsic nerves in the serosa. Conclusion - We conclude that SOX10 is normally required postnatally in the functional maintenance of the entire enteric nervous system, including neurones and glia. In non-syndromic HD patients who do not have the SOX10 mutation, the SOX10 gene expressed in the sacral region may be involved in the pathogenesis of the abnormal nerve trunks through interaction with other factors.en_HK
dc.languageengen_HK
dc.publisherBMJ Publishing Group. The Journal's web site is located at http://gut.bmjjournals.com/en_HK
dc.relation.ispartofGuten_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectColonen_HK
dc.subjectEnteric nervous systemen_HK
dc.subjectHirschsprung's diseaseen_HK
dc.subjectNeurocristopathyen_HK
dc.subjectPolymorphismen_HK
dc.subjectSOX10en_HK
dc.subject.meshDna-binding proteins - genetics - metabolismen_HK
dc.subject.meshEnteric nervous system - metabolismen_HK
dc.subject.meshHigh mobility group proteins - genetics - metabolismen_HK
dc.subject.meshHirschsprung disease - geneticsen_HK
dc.subject.meshReverse transcriptase polymerase chain reactionen_HK
dc.titleSOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infantsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0017-5749&volume=49&issue=2&spage=220&epage=226&date=2001&atitle=SOX10+is+abnormally+expressed+in+aganglionic+bowel+of+Hirschsprung%27s+disease+infantsen_HK
dc.identifier.emailSham, MH: mhsham@hkucc.hku.hken_HK
dc.identifier.emailLui, VCH: vchlui@hkucc.hku.hken_HK
dc.identifier.emailTam, PKH: paultam@hkucc.hku.hken_HK
dc.identifier.authoritySham, MH=rp00380en_HK
dc.identifier.authorityLui, VCH=rp00363en_HK
dc.identifier.authorityTam, PKH=rp00060en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1136/gut.49.2.220en_HK
dc.identifier.pmid11454798-
dc.identifier.pmcidPMC1728391-
dc.identifier.scopuseid_2-s2.0-0034918382en_HK
dc.identifier.hkuros63593-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0034918382&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume49en_HK
dc.identifier.issue2en_HK
dc.identifier.spage220en_HK
dc.identifier.epage226en_HK
dc.identifier.isiWOS:000169965000014-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridSham, MH=7003729109en_HK
dc.identifier.scopusauthoridLui, VCH=7004231344en_HK
dc.identifier.scopusauthoridFu, M=49761323800en_HK
dc.identifier.scopusauthoridChen, B=7408607939en_HK
dc.identifier.scopusauthoridTam, PKH=7202539421en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats