A simple blood test as a potential instrument for the diagnosis of amyotrophic lateral sclerosis (ALS) and for establishing its seriousness and levels of response to experimental treatment is explained in the pages of PloS ONE* by Valentina Bonetto, a researcher at the Dulbecco Telethon Institute working at the Mario Negri Institute of Pharmacological Research in Milan.
ALS is a neurodegenerative disease that affects motor neurons, the nerve cells that provide muscles with movement commands. In 90% of cases the disease appears sporadically, while in the remaining 10% it is instead inherited. Generally speaking one observes the progressive loss of motor functions until the respiratory muscles become paralyzed. There is currently no cure.
«At the moment there is no specific test for an early diagnosis of this serious disease – explains Bonetto –. For the first time we have analysed and compared proteins from blood cells taken from healthy people, patients suffering from ALS and other patients suffering from neuropathies characterised by similar symptoms. We therefore identified proteins, the levels of which were specifically changed only in the presence of ALS, and partly also linked to the disease’s progression. Not only this, but in animals with ALS the levels of some of these proteins appeared changed even before the appearance of symptoms. This has led us to believe that the assessment of these “biomarkers” could be exploited for an early diagnosis of the disease in human beings as well».
This result was achieved thanks to close cooperation between neurologists Massimo Corbo, from the Nemo Clinical Centre in Milan, and Gabriele Mora, from the Salvatore Maugeri Foundation in Milan.
It is important to define as quickly as possible which factors can be used as early warning signals for this disease and for monitoring its progression. Until now these signals have mainly been looked for in spinal cord liquid, which is however a highly invasive test and not easy to apply for experimental purposes. Hence the importance of the study carried out by the Telethon researchers.
Caterina Bendotti, a researcher at the Mario Negri who participated in this study, added,
«monitoring the evolution of ALS thanks to levels of proteins in the blood can provide a fast and objective method for assessing the effectiveness of experimental treatment within a clinical context».
Furthermore, as Bonetto explained, «this study has proved for the first time that some of the proteins present in the blood cells of patients, are also present in animals with this disease. This is an important parallel that can help us study the still unclear mechanisms that cause ALS».
According to Mario Melazzini, president of the Italian Amyotrophic Lateral Sclerosis Association (AISLA) and scientific director of the Nemo centre, «the research carried out by Valentina Bonetto is another important step forward in discovering effective treatment for ALS. Although these are still only laboratory results, I am confident that soon they will be used in clinical practice for diagnoses and above all for prognosis. In view of the recent results obtained regarding the disease’s genetic bases, I feel it is possible to say that Italian researchers are contributing significantly to giving hope to those who are ill, for a future without ALS».
Valentina Bonetto’s research is also sponsored by the non-profit Vialli and Mauro Foundation for Research and Sport (www.fondazionevialliemauro.com target number 9).
*G. Nardo, S. Pozzi, M. Pignataro, E. Lauranzano, G. Spano, S. Garbelli, S. Mantovani, K. Marinou, L. Papetti, M. Monteforte, V. Torri, L. Paris, G. Bazzoni, C. Lunetta, M. Corbo, G. Mora, C. Bendotti, V. Bonetto, “Amyotrophic lateral sclerosis multiprotein biomarkers in peripheral blood mononuclear cells”. PloS ONE, 2011.