New Insight Into A Fatal Childhood Neurodegenerative Disorder Infantile Neuronal Ceroid Lupofuscinoses (INCL)

Main Category: Neurology / Neuroscience
Also Included In: Pediatrics / Children's Health
Article Date: 16 Aug 2008 - 10:00 PST

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Infants with the childhood neurodegenerative disorder infantile neuronal ceroid lupofuscinoses (INCL) suffer from seizures and involuntary twitching/jerking of a single muscle or a group of muscles. The disease, which is fatal, is caused by deficiency in the protein PPT1 as a result of mutations in the PPT1 gene. Anil Mukerjee and colleagues, at the National Institutes of Health, Bethesda, have now provided new insight into the molecular mechanisms by which PPT1 deficiency causes INCL through their analysis of both a mouse model of INCL and postmortem brain tissue from an individual with INCL. Specifically, they observed that PPT1 deficiency causes proteins with an essential role in facilitating nerve cell communication to become permanently anchored to the cell membrane. This impaired the ability of nerve cells to release the substances that they use to communicate with other nerve cells and is likely to contribute to the neurological symptoms of INCL.

TITLE: Palmitoyl protein thioesterae-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice

AUTHOR:
Anil B. Mukherjee
National Institutes of Health, Bethesda, Maryland, USA.
http://www.nih.gov

View the PDF of this article here.

Source:
Karen Honey
Journal of Clinical Investigation