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JCI online early table of contents: Dec. 6, 2010
Date:12/6/2010

dysfunctional muscle fibers in their skeletal and heart muscle (conditions termed myopathy and cardiomyopathy, respectively). This leads to progressive skeletal muscle weakness and heart failure. A team of researchers, led by Jocelyn Laporte, at the Institut de Gntique et de Biologie Molculaire et Cellulaire, France, has now determined that the mechanisms underlying disease in individuals with a previously unrelated form of inherited myopathy (X-linked centronuclear myopathy [XLCNM]) are similar to those in individuals with DES gene mutations. Specifically, they found that the protein generated by the gene mutated in individuals with XLCNM (MTM1) binds desmin (the product of the DES gene) and ensures normal desmin expression and localization in both both mouse and human skeletal muscles. These and other data in the paper lead the authors to suggest that XLCNM and desmin-related myopathy, two conditions thought previously to be unrelated, have common disease-related features.

TITLE: Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle

AUTHOR CONTACT:
Jocelyn Laporte
Institut de Gntique et de Biologie Molculaire et Cellulaire, Illkirch, France.
Phone: 33.388653412; Fax: 33.388653201; E-mail: mtm@igbmc.fr.

View this article at: http://www.jci.org/articles/view/44021?key=bb6f6768d97d3b80e3b2


OPHTHALMOLOGY: Support for light-sensing cells eroded by the mTOR signaling pathway

The retina is the light-sensitive tissue that lines the inner surface of the eye. It consists of light-sensitive nerve cells known as photoreceptors and cells that support and nourish the photoreceptors, which are known as retinal pigment epithelial (RPE) cells. RPE cell dysfunction leads to retinal degeneration and loss of visual acuity. A
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Contact: Karen Honey
press_releases@the-jci.org
734-546-5242
Journal of Clinical Investigation
Source:Eurekalert

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