The focus of Biospirál Kft’s research falls onto spongiform encephalopathy and Alzheimer’s disease. These two are neurodegeneration-inducing protein-conformational diseases during which the accumulation of protein aggregates, amyloids can be observed, leading to the mental and physical deterioration of the patient, and eventually, death. While they typically affect older people, the prolonged life expectancy in the developed world has resulted in the dramatic increase of such cases. Currently, the number of people suffering from these diseases is estimated to be over 10 million (over 3 million in Europe alone) with no proper diagnostic methods and effective treatments in sight.
Although the number of patients suffering from the inherited or spontaneous forms of spongiform encephalopathy (commonly known as mad cow disease) is rather low, the development of a diagnostics method is particularly important due to the transmissible nature of the disease. Millions have consumed beef contaminated with mad cow disease, becoming infected by the prion protein. The symptoms and incubation period are largely determined by the specific alleles responsible for the infection. Research shows that those infected in the first wave of the disease have been homozygous for the methionine in position 129 in the protein. The second wave of infections is expected to appear following a longer incubation period and affect significantly larger portion of the population. These individuals carry allele combinations of the Valin 129 heterozygote and homozygote. This prediction is supported by in vitro and ex vivo experiments, as well as the study of kuru cases (kuru is another form of human spongiform encephalopathy transmissible through ingestion). The incubation period of the second wave is unknown but the development of an effective treatment and a diagnostic method could mitigate these ominous prospects.
A further problem is the fact that the symptomless patients are infectious during the incubation period, making their identification a massive burden required for the safety of the general population during blood donation, organ transplantation or other medical procedures.
The objective of the research and development undertaken by Biospirál Kft. is creating the foundation for high precision diagnostic tools and the development of assays that, using a novel approach, are capable of the specific detection of the prion protein multimers produced by spongiform encephalopathy in the presence of existing prion protein monomers.