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Marten LM, Wanes D, Stellbrinck T, et al. Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive. Biochim Biophys Acta Mol Basis Dis. 2022;166338doi: 10.1016/j.bbadis.2022.166338.
Marten, L. M., Wanes, D., Stellbrinck, T., Santer, R., & Naim, H. Y. (2022). Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive. Biochimica et biophysica acta. Molecular basis of disease, 166338. https://doi.org/10.1016/j.bbadis.2022.166338
Marten, Lara M, et al. "Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive." Biochimica et biophysica acta. Molecular basis of disease vol. (2022): 166338. doi: https://doi.org/10.1016/j.bbadis.2022.166338
Marten LM, Wanes D, Stellbrinck T, Santer R, Naim HY. Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive. Biochim Biophys Acta Mol Basis Dis. 2022 Jan 07;166338. doi: 10.1016/j.bbadis.2022.166338. Epub 2022 Jan 07. PMID: 35007711.
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Biochim Biophys Acta Mol Basis Dis. 2022 Jan 07;166338. doi: 10.1016/j.bbadis.2022.166338. Epub 2022 Jan 07.

Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive.

Biochimica et biophysica acta. Molecular basis of disease

Lara M Marten, Dalanda Wanes, Tammy Stellbrinck, René Santer, Hassan Y Naim

Affiliations

  1. Department of Biochemistry, University of Veterinary Medicine, Bünteweg 17, 30559 Hannover, Germany; Department of Pediatrics, University Medical Center Eppendorf, Martinistr. 52, 20251 Hamburg, Germany.
  2. Department of Biochemistry, University of Veterinary Medicine, Bünteweg 17, 30559 Hannover, Germany.
  3. Department of Pediatrics, University Medical Center Eppendorf, Martinistr. 52, 20251 Hamburg, Germany.
  4. Department of Biochemistry, University of Veterinary Medicine, Bünteweg 17, 30559 Hannover, Germany. Electronic address: [email protected].

PMID: 35007711 DOI: 10.1016/j.bbadis.2022.166338

Abstract

Patients with the rare autosomal recessive disorder congenital lactase deficiency (CLD) present with severe, potentially life-threatening symptoms shortly after birth. Several variants have been characterized within the gene for lactase-phlorizin hydrolase (LCT) that are associated with CLD. Here, we analyze at the biochemical and cellular levels LCT mutants harboring the genetic variants p.Y1390*, p.E1612*, p.S1150Pfs*19, p.S1121L, p.R1587H, and p.S688P. Our data unequivocally demonstrate that these mutants are absolutely transport incompetent, some of which are readily degraded, and are enzymatically inactive. The current study contributes to and expands our understanding on the pathogenesis of CLD at the molecular level.

Copyright © 2021. Published by Elsevier B.V.

Keywords: Biosynthesis; Carbohydrate malabsorption; Congenital lactase deficiency; Enzyme function; LCT gene; Mutations; Protein trafficking

Conflict of interest statement

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this pa

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