jncl schulz
TRANSCRIPT
NEW
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MASTER REGULATORS OF GENE EXPRESSION IN CLN3 DISEASE Georgia Makrypidi and Angela Schulz,
Department of Biochemistry, University Medical Center Children´s Hospital-Eppendorf, Hamburg, 20246, Germany, [email protected]
FOLLOW THESE STEPS….
Step 1:
CLN3 gene mutation
microarrays of
regulators
The scientist can identify the dys-regulated genes with specific tools called microarrays. The above figure illustrates a microarray in which each single spot corresponds to a specific gene. The spot‘s color shows whether the gene is up-regulated (red) or down-regulated (green).
How does the genome react? Step 2: Who is responsible for these gene dysregulations?
Equilibrium in our genome is mantained through a balanced gene expression and keeps an organism in a healthy state.“Special“ genes called miRNAs regulate gene expression in order to keep the cell healthy. In addition, these regulators modulate cellular functions by regulating gene expression.
Advanced softwares are able to * Predict the gene targets of the regulators * Match the regulators and their gene targets * Suggest the involvement of the predicted targets in cellular functions
Which is the advantage to know the regulator?
Gene microarray
Step 4:
Many genes code for proteins which cooperate and perform functions that keep the cell in a healthy state, an equilibrium. In a CLN3 patient‘s cell, this equilibrium is perturbed. Recent studies showed that the equilibrium in our genome is mantained through a balanced gene expression. Although we do not know the function of CLN3, we know how the genome responds when the CLN3 gene is mutated. Genome responses correspond to gene dys-regulations.
Step 3:
mRNAs
How does the miRNA regulate the gene expression?
chromosome
genome
Gene A Gene B miRNA Gene C Gene D Gene E
When miRNA is present
A B
D miRNAs
The genes A,B,D will not be expressed and their proteins will not be synthesized
When miRNA is absent
A B
D
mRNAs degraded
The genes A,B,D will be expressed and their proteins will be synthesized
This an event that the scientists can take advantage of.
How can we identify the regulators in CLN3 disease?
microarrays of
gene expressions
Advanced Software
NEW!!!!
NEW
Hey pssssst!!
You need to find the Regulator!!
How am I going to work with all these genes? I need Men power…….
The identification of a single regulator will allow us to predict the impaired function
WHAT DOES THIS MEAN FOR THERAPY
Repression or activation of the regulator will allow us to restore the impaired function
The identified regulator could represent a future biomarker candidate for CLN3 disease