Contribuições da biologia molecular e da bioinformática no âmbito da doença de Huntington: uma abordagem cienciométrica

Abstract

Huntington's disease (HD) is considered an autosomal dominant neurodegenerative disorder, caused by a mutation in the 5' end of the IT15 gene that encodes huntingtin, providing an unstable expansion of the CAG (cytosine-adenine-guanine) triplet. This pathology is clinically characterized by a triad of symptoms, movement disorders, changes in mood and cognitive behaviors, associated with selective atrophy of the striatum and cerebral cortex regions. The complex mechanisms that lead to neuronal degeneration and death are not completely elucidated, and as such, there is currently no curative treatment that can modify the inexorable course of the disease. The objective of this work is to analyze, through a scientometric bibliographical review, how molecular biology techniques and bioinformatics tools can contribute to the diagnosis, treatment and prevention of HD, using data obtained from the Web of Science (WoS) platform. The search covered all databases and languages available on the platform, focusing exclusively on scientific articles. The search was carried out between March and June 2023. International cooperation in HD research, most intense in 2020-2022, highlights the US and European countries with a higher density of cooperation, except Finland. Technological advances have facilitated communication and data sharing, while the urgency of global solutions has spurred joint funding and resource sharing, resulting in faster progress in understanding and treating the disease. Among the most relevant research groups the United States, England and Canada focus on disease-modifying therapy. Meanwhile, Italy and Germany explore the molecular mechanisms underlying HD, and India investigates natural approaches, aiming for less invasive and more sustainable. Molecular biology has contributed to the detection and diagnosis of HD through PCR and other advanced methods, such as Southern blotting and DNA sequencing. Bioinformatics has helped in the identification of genetic variants associated with HD and early markers of HD, in understanding molecular pathways involved in the pathology and in the analysis of large sets of genomic data, using various tools. Together, the two areas are of great relevance for early detection, diagnosis, development of preventive strategies, and development of personalized and potentially disease-modifying therapies.