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Related Experiment Videos

Ulcerative colitis in monozygotic twin sisters.

Moriya Iwaizumi1, Masami Yamada, Mutsuo Kitagawa

  • 1Department of Gastroenterology, Hamamatsu Medical Center.

Internal Medicine (Tokyo, Japan)
|September 5, 2002
PubMed
Summary

This case report details a rare instance of identical twins diagnosed with ulcerative colitis (UC). The findings suggest a potential link between genetic predisposition and environmental triggers in the development of UC.

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Area of Science:

  • Gastroenterology
  • Genetics
  • Immunology

Background:

  • Ulcerative colitis (UC) is a chronic inflammatory bowel disease with multifactorial etiology.
  • Genetic factors, including Human Leukocyte Antigen (HLA) associations, are implicated in UC pathogenesis.
  • Monozygotic twins offer a unique model to study the interplay of genetics and environment in disease development.

Observation:

  • A 21-year-old woman presented with symptoms of proctitis type UC, confirmed by endoscopic and histological examination.
  • Six months later, her identical twin sister was diagnosed with total colitis type UC.
  • Both twins shared specific HLA serological types (A24, B52, DR2, DQ1) and a DRB1*1502 DNA type.

Findings:

  • The co-occurrence of UC in monozygotic twins highlights a potential genetic predisposition.

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  • The shared HLA and DRB1*1502 DNA types provide specific genetic markers associated with UC in this twin pair.
  • The differing extent of colitis (proctitis vs. total colitis) suggests environmental or other epigenetic factors may influence disease phenotype.

    • Implications:

    • This case reinforces the hypothesis that a combination of genetic susceptibility and environmental factors contributes to the etiology of ulcerative colitis.
    • Further research into specific environmental triggers in genetically predisposed individuals could elucidate UC development.
    • Understanding these genetic and environmental interactions is crucial for personalized risk assessment and potential therapeutic strategies for UC.