Presentation of Dr. Erik Storkebaum
The fruit fly as a model for Amyotrophic Lateral Sclerosis
Dr. Erik Storkebaum, researcher at the Department of Human Genetics (KU Leuven Gasthuisberg)
Dr. Erik Storkebaum, researcher at the Department of Human Genetics (KU Leuven Gasthuisberg)
Dr. Storkebaum started by giving an explanation about ALS. He made it clear that ALS is not a muscle disease, but a nerve disorder whereby the motoric nerve cells die and do no longer transmit impulses to the muscles. This is the reason why the muscles die and that difficulties such as movement, talking, swallowing,… arise.
So far it is unknown what causes ALS. There is an urgent need for a better insight in the generation mechanism of ALS and a need for better treatments than Rilutek.
Before explaining his research, he told us that the hereditary form of ALS strikes 10% of all ALS patients. Research has shown that mutations in the genes SOD1, Alsine, Senataxine (causes ALS4) and VAPB play a role.
Dr. Storkebaum is mainly interested in ALS4. The characteristics of this type of ALS are:
- juvenile ALS: strikes children or adolescents
- muscle weakness and loss of muscle that leads to paralysis
- slow progression
- normal life expectations
He outlined the connection with Ataxia (coordination difficulties of movement) and more precisely with Ataxia with Ocular Apriaxia type 2 or AOA2, with the following symptoms:
- progressive atrophy of the cerebellum
- severe malfunction of the motoric coordination
- Dying of motoric and sensory nerves causing atrophy of the muscles and a disturbance of the sense.
ALS4 and AOA2 show similar symptoms and are both caused by the defective gene senataxine. The function of this gene is yet unknown. Furthermore there are no models to carry out tests. But it is said that what we learn from the hereditary ALS (including ALS4) can also be applied to the sporadic form.
For his study Dr. Storkebaum searched an animal model with a short life cycle and that was simple and cheap to breed. But that also offers a lot of possibilities for the genetic manipulation and has the same components as the human nerve system. This is how he ended up with the fruit fly, which is also successfully used in research for other neurodegenerative diseases such as Alzheimer, Parkinson en Charcot-Marie-Tooth or CMT.
In the fruit fly the human mutant of the senataxine gene is expressed. Contrary to AOA2 where it is inactivated. Next to the models he also uses fruit flies to check. This way he will study the running, climbing and flying capacities, but also the life expectancy and analyzing the tissues for ALS4 and AOA2.
With his research he hopes to give an insight into the unraveling of the generation mechanism, the tracing of genes that influence the disease process and the testing of drugs. The biggest task of the research will be the research into which genes make the evolution of the disease slower or quicker. Once the first results are booked, he will test his findings on mice.
Questions?
Are ALS and Parkinson similar?
Both diseases are sometimes associated with each other, as in both cases it concerns an atrophy of the nerve cells, even though it concerns other nerve cells.
What is the difference between ALS and CMT?
In an early stage both diseases proceed in a similar way and it is not possible to define why the symptoms are consistent. In the case of CMT it are only the peripheral nerves that get damaged. In the case of ALS it concerns the moto neurons in the nerve system.
Translation: S. Janssens
