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

Author(s): Xian-ping Dong, Xiping Cheng, Eric Mills, Markus Delling, Fudi Wang, Tino Kurz, Haoxing Xu



New research lead by Assistant Professor Haoxing Xu and his lab group revealed a glitch in the ability to move iron around in cells that may underlie a disease known as Type IV mucolipidosis (ML4) and its symptoms which include mental retardation, poor vision, and diminished motor abilities. Diseases such as Alzheimer's and Parkinson's may also be involved with this same deficit in iron transport in cells. By exploring the iron transporter protein, possibly TRPML1, the researchers are creating new possibilities for potential treatments to aging and neurodegenerative diseases. Picture shows the accumulation of lipofuscin, so called "aging pigment" in lysosomes of TRPML1-deficient cells from a ML4 patient.

Publication Information:

Name of Periodical: Nature

Year of Publication: 2008