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Resources » Paper

Gert de Voer et al. (2003) International Worm Meeting "Overexpression of subunit c of the mitochondrial ATP synthase in Caenorhabditis elegans cln-3 triple mutants"

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  • Comments on Gert de Voer et al. (2003) International Worm Meeting "Overexpression of subunit c of the mitochondrial ATP synthase in Caenorhabditis elegans cln-3 triple mutants" (0)

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    Publication type:
    Meeting_abstract
    WormBase ID:
    WBPaper00019415

    Gert de Voer, Ronald OB de Keizer, Gert-Jan B Van Ommen, Dorien JM Peters, & Peter EM Taschner (2003). Overexpression of subunit c of the mitochondrial ATP synthase in Caenorhabditis elegans cln-3 triple mutants presented in International Worm Meeting. Unpublished information; cite only with author permission.

    Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Battens disease is one of the most common hereditary neurodegenerative disorders of childhood with a severe progressive nature. JNCL is a lysosomal storage disease in which the major component of the stored material is subunit c of the mitochondrial ATP synthase (scMAS). Mutations in the CLN3 gene were identified as the cause of JNCL. In C. elegans three genes, cln-3.1, cln-3.2, and cln-3.3, homologous to the human CLN3 gene have been identified by sequence comparison. Single cln-3 deletion mutants do not have an obvious phenotype, which could be caused by functional redundancy. Therefore, all mutations have been crossed into the same background to obtain cln-3.1 cln-3.2 cln-3.3 triple mutants. This mutant is viable and phenotypically normal, suggesting that the cln-3 genes are not essential for normal development and functioning of C. elegans. In the cln-3 triple mutant we have not yet been able to detect several of the cellular features characterizing JNCL patients, such as accumulation of autofluorescent lipopigments, and specific lysosomal storage patterns. Therefore, we decided to investigate whether overexpression of scMAS could enhance a possible phenotype. We have generated transgenic worms, in which scMAS can be overexpressed under the control of heat shock promoter hsp-16.2. After a two-hour heat shock at 33 degrees C, in contrast to wildtype all transgenic animals had died, indicating that overexpression of scMAS has a deleterious effect on its own. Loss of mitochondrial staining by the fluorescent dye Mitotracker Red in transgenic worms after heat shock suggests that the mitochondria have disintegrated. Transgenic animals grown at 25 degrees C only show bulges of variable size at the tail section, and occasionally have abnormal embryos. We crossed the integrated scMAS overexpression array into the cln-3 triple mutant to test whether growth at 25 degrees C would result in an enhanced phenotype. We are currently testing different scMAS overexpression conditions to obtain a clear-cut phenotype in cln-3 triple mutants. This study was supported in part by the Batten Disease Support and Research Association.


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