Molecular Studies of Mutations Related to Neurodegenerative Diseases

Dear Colleagues,

In order to identify the mechanisms by which mutations cause disease, it is necessary to study their molecular effects at the DNA, RNA or protein level. By addressing these effects, we can explain the changes that occur at the cellular or even whole organism level.

Moreover, in the field of medical genetics and genomics, it is crucial to prioritize variants based on their potential to cause disease. Once prioritized, it is essential to investigate their impact on protein levels or function. These analyses can be conducted using a variety of approaches, depending on the gene or genome region where the variant is located. In some cases, variants affect gene transcription or mRNA splicing, which can be analyzed experimentally by studying splicing or transcription regulation regions. In other cases, changes are found in coding regions with the potential to affect protein levels by altering their degradation rate or stability, or by modifying their structure and function. In the latter cases, it is difficult to experimentally determine the effect of a large number of mutations given the labor-intensive nature of the available techniques. However, structural modeling and recent advances in artificial intelligence for protein structure determination make it possible to analyze them in silico.

This Special Issue will consider works addressing the study of different mutations found in patients with neurodegenerative diseases. In some cases, the effects of SNPs in transcription regulatory regions, primarily promoters and UTRs are studied. In others, the study of splicing alterations could be approached by different techniques. In silico tools do not always accurately predict these effects, making it necessary to experimentally determine the effect of these mutations. In the case of nonsense mutations, the inhibition of the NMD pathway could be used in cellular models to test the effect on protein levels. Finally, in vitro and in silico studies of the effects of mutations could be performed to determine their effect on protein structure and therefore function. In these cases, the availability of good structures, as well as data related to the relationship between protein structure and function, is critical for obtaining reliable results.

These techniques enable the successful determination of the effect of all types of mutations, including experimental and in silico results, thus facilitating the determination of the effect of the mutations identified. Consequently, they facilitate the advancement of knowledge of the molecular mechanisms underlying pathologies through rapid and relatively simple approaches. However, it is important to be aware of the limitations of different methodologies and models to ensure the correct application in order to obtain reliable results or seek alternatives.

Dr. Fernando Cardona
Guest Editor

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