BACKGROUND: Keratin 8 is a major component of intermediate filaments in single-layered epithelia of the gastrointestinal tract. Keratin 8 deficient mice display signs of colitis and diarrhoea characteristic for inflammatory bowel disease. Very recently, two keratin 8 mutations, Y54H and G62C, were identified. AIMS: We investigated if these keratin 8 missense mutations were associated with inflammatory bowel disease. PATIENTS: In total, 217 German patients with Crohn' s disease, 131 German patients with ulcerative colitis, and 560 German control subjects were enrolled in this study. METHODS: Samples were analysed by PCR amplification and subsequent melting curve analysis using fluorescence resonance energy transfer probes. RESULTS: The G62C mutation was detected in five (2.3%) patients presenting with Crohn's disease and in three (2.3%) with ulcerative colitis. In comparison, 9 (1.6%) out of 560 controls were heterozygous for this mutation. No patient or control was homozygous for this mutation. Patients carrying one mutant allele did not show any noticeable characteristics in their corresponding phenotype. In contrast, the Y54H mutation was observed in neither any of the 348 patients with inflammatory bowel disease nor in any control subject. CONCLUSIONS: Our data indicate that both keratin 8 mutations, G62C and Y54H, do not play a relevant pathogenic role in inflammatory bowel disease.
BACKGROUND:Keratin 8 is a major component of intermediate filaments in single-layered epithelia of the gastrointestinal tract. Keratin 8 deficient mice display signs of colitis and diarrhoea characteristic for inflammatory bowel disease. Very recently, two keratin 8 mutations, Y54H and G62C, were identified. AIMS: We investigated if these keratin 8 missense mutations were associated with inflammatory bowel disease. PATIENTS: In total, 217 German patients with Crohn' s disease, 131 German patients with ulcerative colitis, and 560 German control subjects were enrolled in this study. METHODS: Samples were analysed by PCR amplification and subsequent melting curve analysis using fluorescence resonance energy transfer probes. RESULTS: The G62C mutation was detected in five (2.3%) patients presenting with Crohn's disease and in three (2.3%) with ulcerative colitis. In comparison, 9 (1.6%) out of 560 controls were heterozygous for this mutation. No patient or control was homozygous for this mutation. Patients carrying one mutant allele did not show any noticeable characteristics in their corresponding phenotype. In contrast, the Y54H mutation was observed in neither any of the 348 patients with inflammatory bowel disease nor in any control subject. CONCLUSIONS: Our data indicate that both keratin 8 mutations, G62C and Y54H, do not play a relevant pathogenic role in inflammatory bowel disease.
Authors: Debabrata Majumdar; James P Tiernan; Alan J Lobo; Caroline A Evans; Bernard M Corfe Journal: Int J Exp Pathol Date: 2012-10 Impact factor: 1.925
Authors: Matthias Treiber; Hans-Ulrich Schulz; Olfert Landt; Joost P H Drenth; Carlo Castellani; Francisco X Real; Nejat Akar; Rudolf W Ammann; Mario Bargetzi; Eesh Bhatia; Andrew Glenn Demaine; Cinzia Battagia; Andrew Kingsnorth; Derek O'Reilly; Kaspar Truninger; Monika Koudova; Julius Spicak; Milos Cerny; Hans-Jürgen Menzel; Pedro Moral; Pier Franco Pignatti; Maria Grazia Romanelli; Olga Rickards; Gian Franco De Stefano; Narcis Octavian Zarnescu; Gourdas Choudhuri; Sadiq S Sikora; Jan B M J Jansen; Frank Ulrich Weiss; Matthias Pietschmann; Niels Teich; Thomas M Gress; Johann Ockenga; Hartmut Schmidt; Andreas Kage; Juliane Halangk; Jonas Rosendahl; David Alexander Groneberg; Renate Nickel; Heiko Witt Journal: J Mol Med (Berl) Date: 2006-10-13 Impact factor: 4.599