The significant aging of the population in developed societies entails that age-related diseases have an increasing prevalence. Particularly relevant are those affecting the central nervous system, such as dementia or movement disorders of which the best known are Alzheimer’s disease and Parkinson respectively.
Our group addresses this issue using molecular genetics tools. To do this we apply classical genetic techniques to the study of characters familiar with Mendelian inheritance. That is, those characters which are transmitted between successive generations of a family and cause disease more often than they appear in the general population. Applying this methodology we were able to identify a gene responsible for a form of partial epilepsy (ADLTE) and a familial form of Parkinson’s disease. That is, in this way we can identify what causes a familial disease and thus initiate a path that could eventually lead to a cure.
But most cases of neurodegenerative diseases we studied do not present so marked a familiar character: The number of cases that appear in a patient’s family is very small. These forms are known as multifactorials since it is assumed that its appearance is coming governed by a variable number of genetic factors with a more or less important contribution of environmental factors. In this case, our studies demonstrate the existence of specific genetic risk factors , changes in the genome that appear in the population but confer an increased risk from the disease to a portion of the carrier population. These risk factors do not act independently but interact with the rest of the genome to confer a greater, or lesser, risk for the disease.
Finally, our interest is also directed to understand what genetic profiles relate to specific clinical features of the disease. Either related to its progression, either related to the response to particular treatments .
In summary, we intend to obtain a precise genetic characterization of most common neurodegenerative diseases to, based on this information, determine their ethiology and establish therapeutic targets to improve their treatment.