Premium
Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1
Author(s) -
Porter Morwenna Y.,
Turmaine Mark,
Mole Sara E.
Publication year - 2005
Publication title -
journal of neuroscience research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.72
H-Index - 160
eISSN - 1097-4547
pISSN - 0360-4012
DOI - 10.1002/jnr.20403
Subject(s) - biology , caenorhabditis elegans , pathogenesis , neuronal ceroid lipofuscinosis , batten disease , phenotype , mutation , genetics , microbiology and biotechnology , mitochondrion , gene , immunology
Infantile neuronal ceroid lipofuscinosis (INCL; Batten disease) is a severe neurodegenerative disorder of childhood characterized by the accumulation of autofluorescent storage material in lysosomes. It is caused by mutation of the CLN1/PPT1 gene, which encodes the lysosomal enzyme palmitoyl protein thioesterase‐1 (PPT1), but the mechanism of disease pathogenesis and substrates for the enzyme are unknown. Caenorhabditis elegans is a simple nematode worm, with a fully sequenced genome, which is easy to maintain and manipulate. It has a completely mapped cell lineage and nervous system and has already provided clues about the pathogenesis of several human neuronal and lysosomal storage disorders. We have identified and characterized a PPT1 homologue in C. elegans . We found that, although this gene was not essential for the animal's survival, its mutation resulted in a mild developmental and reproductive phenotype, affected the number and size of mitochondria, and resulted in an abnormality in mitochondrial morphology, possibly suggestive of a role for this organelle in INCL pathogenesis. This strain, deleted for ppt‐1 , potentially provides a model system for the study of PPT1 and the pathogenesis of INCL. © 2005 Wiley‐Liss, Inc.