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The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel

Author

Listed:
  • Xian-Ping Dong

    (Cellular, and Developmental Biology, The University of Michigan, 3089 Natural Science Building (Kraus), 830 North University, Ann Arbor, Michigan 48109, USA)

  • Xiping Cheng

    (Cellular, and Developmental Biology, The University of Michigan, 3089 Natural Science Building (Kraus), 830 North University, Ann Arbor, Michigan 48109, USA)

  • Eric Mills

    (Cellular, and Developmental Biology, The University of Michigan, 3089 Natural Science Building (Kraus), 830 North University, Ann Arbor, Michigan 48109, USA)

  • Markus Delling

    (Children’s Hospital Boston, Enders 1350, 320 Longwood Avenue, Boston, Massachusetts 02115, USA)

  • Fudi Wang

    (Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences)

  • Tino Kurz

    (Faculty of Health Science, University of Linköping)

  • Haoxing Xu

    (Cellular, and Developmental Biology, The University of Michigan, 3089 Natural Science Building (Kraus), 830 North University, Ann Arbor, Michigan 48109, USA)

Abstract

Mucolipidosis type IV: TRPML1 as an iron-release channel Mutations in the human TRPML1 gene, a member of the transient receptor potential (TRP) superfamily of ion channels, cause mucolipidosis type IV disease. Symptoms of the condition include anaemia, psychomotor retardation and retinal degeneration. Xian-ping Dong et al. now show that TRPML1 acts as a Fe2+-permeable channel in lysosomes, and that disease-associated mutations impair Fe2+ transport. The work suggests that impaired iron transport underlies symptoms of mucolipidosis, including neurodegeneration, and that lysosome-targeting chelators might alleviate the degenerative symptoms of patients with mucolipidosis type IV.

Suggested Citation

  • Xian-Ping Dong & Xiping Cheng & Eric Mills & Markus Delling & Fudi Wang & Tino Kurz & Haoxing Xu, 2008. "The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel," Nature, Nature, vol. 455(7215), pages 992-996, October.
    • Handle: RePEc:nat:nature:v:455:y:2008:i:7215:d:10.1038_nature07311
    DOI: 10.1038/nature07311
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