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Fundamental Research

One of the unsolved questions regarding juvenile Neural CeroidLipofuscinosis is what function the concerned protein (CLN3) has in the cell anyway. 

This and further unexplained areas of research are advanced through the provision of doctorate scholarships including the NCL Research Award.

Fundamental research can be simulated with the aid of different types of model systems based on the progress of NCL. Yeast, which actually possess a gene related to CN3 and is easilykept and manipulated, and flies, which possess a very good,characterised nervous system, come into question here. Due to the recently established induced pluripotent stem cells, there are a huge range of possibilities open to us. The following table shows the current CLN3 model systems and the laboratory which established them.







David Pearce, Jeffrey Gerst



Sara Mole


Drosophila melanogaster

Guy Tear, Richard Tuxworth


Musmusculus - Knock-In-Mouse

Susan Cotman


Musmusculus - Knock-Out-Mouse

Hannah Mitchison


Mus musculus - Reporter-Mouse

Beverly L. Davidson

Human cells

Diverse, primary patient cell lineage



Induced pluripotent stem cells (IPS)

Susan Cotman, Andreas Storch


Furthermore, many researchers experimented on CLN3 in the threadworm (Caenorhabditiselegans).What is particularly interesting about this organism, is that unlike all of the other models, it possesses three homologous CLN3s. Despite this,there were no noteworthy observations to be found by the first or second Knock-Out or any other CLN3 genes. It would be interesting to find out how C. elegansmanages to compensate for this loss.

The Clare Russell Laboratory is currently trying to establish the zebrafish as a CLN3 model. However there haven’t been any publications released regarding this to date.



Resulting from all of this knowledge, new agents should be found that can curb, or even avoid, the continuous destruction of sensitive nerve cells.


Explanation of terms

1. Knock In: Insertion of a protein coding cDNA in a specific locus of the genome

2. Knock Out: Targeted deactivation of one or more genes in the genome

3. Reporter Mouse: Selecting a protein through genetic fusion of the target protein with a reporter protein such as GFP (green fluorescent protein), so that, for example, the localisation of the target protein can be observed

4. iPS Cells: Pluripotent stem cells, which through re-programming, non-pluripotent, somatic cells are evolved


This German - English translation was done by the translators Tizzy Mann, Andrea Murphy, Kate Humby and Marcia Neff for the PerMondo initiative that involves providing free translations for NGOs. PerMondo is sponsored and run by the translation agency Mondo Agit.