New Mutations in the Lactase Gene Linked to Congenital Lactase Deficiency
Author Information
Author(s): Suvi Torniainen, Roberta Freddara, Taina Routi, Carolien Gijsbers, Carlo Catassi, Pia Höglund, Erkki Savilahti, Irma Järvelä
Primary Institution: University of Helsinki
Hypothesis
The study aims to identify new mutations in the lactase gene (LCT) that cause congenital lactase deficiency (CLD) in patients from various ethnic backgrounds.
Conclusion
This study identifies four novel mutations in the LCT gene associated with congenital lactase deficiency, suggesting the condition may be more common than previously thought.
Supporting Evidence
- Four novel mutations in the LCT gene were identified in patients with congenital lactase deficiency.
- The study suggests that congenital lactase deficiency may be more common than previously estimated.
- All identified mutations lead to a similar phenotype despite their different locations in the gene.
Takeaway
Some babies can't digest milk because they don't have enough of a special enzyme called lactase. This study found new reasons why some babies have this problem.
Methodology
The study sequenced the coding region of the LCT gene and analyzed disaccharidase activities in intestinal biopsy specimens from five patients.
Limitations
The study's sample size is small and may not represent the broader population.
Participant Demographics
Participants included infants from Italy, Finland, and Turkey with clinical features of CLD.
Digital Object Identifier (DOI)
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