The completion of the mapping of the human genome, announced on March 31, is a scientific milestone in the knowledge of DNA. The data published in the journal Science gather relevant information about diseases and human evolutionary characteristics.
Until then, about 92% of the human genetic code was known. The international research group was able to process the remaining 8%, which contained large repeating sequences of protein-associated DNA molecules called heterochromatins – considered the most difficult part to be translated and reconstructed.
In this Monday’s edition (4) of the Medical Correspondent from Novo Dia, neurosurgeon Fernando Gomes explained how the discoveries could bring benefits in knowledge aimed at disease prevention and the search for more effective treatments.
“Understanding that there is a difference in DNA between people, that is, the genetic code, and better understanding diseases and physical and physiological characteristics, we can imagine the following: there is a lot of ground ahead that can be cleared in terms of treatment and therapy gene itself,” he said.
genetic alterations
Genetic alterations can lead to the development of diseases and different conditions that affect the human body, such as sickle cell anemia, cystic fibrosis and Huntington’s disease. DNA changes can be hereditary or caused by the interaction of genetic and environmental factors.
Down syndrome, for example, is the result of a genetic alteration caused by an error in cell division during embryonic formation. People with the condition have three chromosomes in the 21st pair instead of just two. Genetic changes are associated with characteristics such as slanted eyes, decreased muscle tone, smaller hands and shorter fingers, as well as impacts on cognitive development.
Diseases such as diabetes, color blindness and some types of cancer can also have a genetic origin. According to neurosurgeon Fernando Gomes, the conclusion of the genetic mapping opens the way for the study of these diseases.
“When you have the genetic code deciphered, you understand that ultimately there is the production of proteins and this will interfere with the body’s own development and the process of metabolism and cell functioning. When we can understand what part is altered or what could be improved, you have a perspective of action”, he highlights.
The understanding of the origins of diseases that still remain unknown and the development of more accurate diagnostic methods may contribute to the control of public health problems.
“If I can diagnose a problem early or recognize where the initial focus of everything is, then I can make a much more satisfying intervention”, he adds.
A genomic database of elderly people in São Paulo, developed by researchers at the Center for the Study of Human Genomes and Stem Cells, at the Institute of Biosciences at the University of São Paulo, will make it possible to identify mutations responsible for genetic diseases in the Brazilian population or that are determinants of healthy aging.
Brazilian genomic database
A Brazilian genomic database, developed by researchers at the Center for the Study of Human Genomes and Stem Cells, at the Institute of Biosciences at the University of São Paulo (USP), will make it possible to identify mutations responsible for genetic diseases in the Brazilian population or that are determinant for healthy aging.
Individual data are now available to the scientific community upon download request. Aggregates began to be made available in recent years in the Brazilian On-line Archive of Mutations (ABraOM).
Results obtained through analyzes made from the genomic bank were described in an article published in early March in the journal Nature Communications. The preliminary findings were published in 2020 on the bioRxiv platform, in an article without peer review.
The bank is the result of a pioneering study of the sequencing of 1,171 complete genomes of elderly Brazilians, representing the largest group of genomes of elderly people in Latin America.
The research, initially called “Projeto 80mais”, was started in 2008 with the objective of characterizing the genome of healthy elderly people from a physical and cognitive point of view, with the aim of creating a genomic reference bank for the Brazilian population and contributing to the to unravel the factors involved with healthy aging.
(With information from Agência Brasil and Agência Fapesp)
Source: CNN Brasil