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

Xian-Ping Dong, Xiping Cheng, Eric Mills, Markus Delling, Fudi Wang, Tino Kurz and Haoxing Xu ()
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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

Nature, 2008, vol. 455, issue 7215, 992-996

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.

Date: 2008
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DOI: 10.1038/nature07311

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