Navigation Links
Interferon-beta aids balance and movement in mice with spinocerebellar ataxia 7

Paris, France: The group of genetic conditions known as spinocerebellar ataxias currently have no treatment or cure and are always fatal, in the case of affected children at an early age. Symptoms include a progressive lack of co-ordination of gait, and poor co-ordination of hands, speech and eye movements, due to a failure of co-ordination of muscle movements. Now researchers from France and the US have found a new way of controlling the symptoms and significantly improving the physical condition of animal models of the disease, the annual conference of the European Society of Human Genetics will hear today (Monday June 10).

Dr. Annie Sittler, from the Centre National de la Recherche Scientifique (CNRS), working in the team of Professor Alexis Brice at the research centre Brain and Spinal Cord Institute (CR-ICM), Paris, France described the team's work in the field of polyglutamine disease, a group of neurodegenerative conditions involving abnormal protein conformation. "Accumulation of a polyglutamine-containing protein known as mutant ataxin -7 is responsible for neurotoxicity, neuronal dysfunction, and eventually neuronal death", she explains. "We had previously shown in cells that mutant ataxin-7 was degraded in nuclear bodies, structures found in the nucleus of cells, by a protein known as promyeloctyic leukaemia protein or PML, and that interferon-beta could help with this process and protect against disease."

The researchers used a mouse model of a particular form of spinocerebellar ataxia known as SCA7. The genetically-modified 'knock-in' mice develop the severe type of the disease, similar to the infantile human version, and have a very short lifespan of around 14 weeks. They were injected with mouse interferon-beta three times a week, starting at five weeks of age, just before their first symptoms of disease were due to appear. Investigation of their brains post-mortem showed that the mice who had received the interferon-beta, as opposed to those in the control group, had a reduced load of mutant ataxin-7.

On the physical level, substantial improvements in the interferon-beta treated mice were noticed. "At twelve weeks of age the physical performance of the mice that received the active substance was significantly improved compared to the control group. We gave them a locotronic test, where they have to cross a kind of ladder. This test is used to check motor co-ordination when walking. We also put them through a beam-walking test, which enables us to measure their balance and limb co-ordination. The treated mice did much better in both of these tests", Dr. Sittler will say.

Further proof of the positive effects of interferon-beta came from analysis of the PML nuclear bodies, involved in many cellular processes such as transcriptional regulation and apoptosis. A subset of these nuclear bodies is responsible for regulating the degradation of accumulated misfolded proteins in the cell nucleus. The treated mice had more, and very much larger, PML bodies, and they were present in the Purkinje cells, responsible for motor co-ordination emanating from the cerebellum The researchers further found that these PML bodies were clastosomes, the specialised nuclear bodies involved in the degradation of mutant ataxin-7 and other polyglutamine-containing proteins. "This, together with the physical improvements we saw in the interferon-beta treated mice, was the proof we needed that our findings in the cell could be successfully transferred to living animals", says Dr. Sittler.

"Now that we have found that interferon-beta can slow progression of disease in SCA7 mice, we believe that, after confirmation in another mouse model, it would be merited to test its effects on humans in a clinical trial,", she will say. "Such trials are difficult in rare diseases, since a special design is needed to test a hypothesis on a small number of patients. However, there are a number of other polyglutamine diseases, for example Huntington's, where patient numbers are larger, and the effects of the condition just as devastating. We hope that our results will encourage others to collaborate with us in order that we may be able to pursue our research to the benefit of all those afflicted with spinocerebellar disorders."


Contact: Mary Rice
European Society of Human Genetics

Related biology news :

1. A war without end -- with Earths carbon cycle held in the balance
2. Indonesian fishing communities find balance between biodiversity and development
3. Shifting the balance between good fat and bad fat
4. New menhaden study will help identify balance between fishing and preserving Bay forage fish
5. Decoding the secrets of balance
6. Researchers find mechanism that gives plants balance
7. Increasing water scarcity in Californias Bay-Delta will necessitate trade-offs; hard decisions needed to balance various environmental risks
8. Scientists join forces to bring plant movement to light
9. Outside a vacuum: Model predicts movement of charged particles in complex media
10. 3dMD Transitions Anatomical Research from 3D-Static to 4D-Movement Surface Imaging
11. Research identifies mechanism responsible for eye movement disorder
Post Your Comments:
(Date:9/10/2015)... Pursuant Health has collaborated with health ... interactive, image-based health risk assessment (HRA) optimized for ... unique assessment quantifies user results into an easily ... individual,s biological age based on personal health habits, ... kiosk. Comprised of age, gender, and ...
(Date:9/9/2015)... , Sept. 9, 2015  NuData Security announced ... solution-based milestones, furthering the company,s commitment to protecting ... fraud. NuData Security,s online fraud detection ... company,s growth cycle. The product combines continual analysis ... good user behavior from fraudulent behavior, allowing the ...
(Date:9/8/2015)... , Sept. 8, 2015  Affectiva, global ... Emotion as a Service, a new data solution, ... Based on Affectiva,s highly accurate and patented ... analytics capabilities, slated to transform industries such as ... development, retail, customer experience, online education, HR, automotive, ...
Breaking Biology News(10 mins):
(Date:10/12/2015)... 2015 cell surface marker detection market ... according to a new report by Grand View Research, Inc. ... incidence of oncology diseases and other cell-associated disorders. --> ... reach USD 6.49 billion by 2022, according to a new ... can be attributed to rise in incidence of oncology diseases ...
(Date:10/12/2015)... 12, 2015 LabStyle Innovations Corp. ... Solution, today announced its Medical Director, Dr. Moshe ... MobiHealth,s 5th EAI International Conference on Wireless Mobile ... innovations in mobile and wireless technologies," the conference will ... from October 14 - 16, 2015. The conference is ...
(Date:10/12/2015)... ... 2015 , ... NeuMedics Inc., is a specialty biopharmaceutical company focused on identifying ... chronically be administered as an eye drop, announced today it has been selected to ... taking place October 25th to October 28th at The Cleveland Clinic, Cleveland, Ohio. ...
(Date:10/10/2015)... Maryland , 10. Oktober, 2015 ... Matsui (Abgeordnete der Demokratischen Partei für Kalifornien) ihre ... bis 17. Oktober) in die Aufzeichnungen des Kongresses ... Plasma Protein Therapeutics Association (PPTA) und ihren ... , Hebung des Bewusstseins über Plasmaspenden weltweit ...
Breaking Biology Technology: