A group of scientists reveal they have successfully used new technology to locate “variants” associated with conditions including autism and Alzheimer’s disease.
Older studies that showed a link between human DNA and other disorders were known as “hybrids.” These hybrid studies were based on DNA derived from tumor tissue or macrophages that were examined from patients with serious autoimmune disorders. These hybrid studies were based on pathways they identified and studied in genetically identical patient populations.
In recent years there have been several attempts to utilize large datasets of different types of information, such as genome sequences and phenotypic data, to improve our understanding of human genetic variations.
A new strategy, termed “DNA sampling and assays” or DNA sampling, would be able to significantly improve the precision of genetic markers that are associated with these neurological disorders.
Scientists use techniques such as reverse transcriptase and polymerase chain reaction (PCR) that screen for specific DNA variations in samples from patients. Furthermore, they would be able to analyze more genomes per sample, which would allow for greater statistical power in DNA studies.
These DNA samples are thus only able to be useful for investigating inherited diseases such as autism, schizophrenia, and Huntington’s. But this does not mean that other severe diseases or neuropsychiatric disorders are not affected, the team wrote in Nature Genetics.
RNA precancer biomarkers identified
Among the researchers was Dr. Andrew Yun, an assistant professor at Rockefeller University in New York, who focused on turning his own studies into potential advances in genome sequencing.
Yun’s collaboration involved the use of “unmasked RNA” (UMRA), which has been used to identify viruses and cancer processes in mice. Using UMRA techniques, the researchers successfully found 129 newly identified proteins within the human genome.
These proteins were identified as different RNA precursors — molecules that build up DNA that contain pieces of RNA. Prior to this project, scientists had only been able to identify 62 RNA precursors — and many of those present are identical or are in double-standards.
“This study provided evidence that known endophenotypes can be used to develop new endophenotypes, or products, by generating assemblies and correcting them as needed in a manner that is specific to the specific endogenisim,” the team wrote.
“The association of many genes may be reduced in using this technology.” Yun
Furthermore, Dr. Yun found that there are also extracellular or “chaperone” RNAs present in many of the proteins identified. These are molecules that work to stabilize RNAs and make it easier for them to communicate with the other molecules needed to make the protein, such as in the production of proteins in cells.
Finally, researchers were able to utilize new expression of transcription factors — proteins that control or determine how genes are translated — and other highly specific transcription factors to make new proteins that can be used in the diagnosis and treatment of a wide range of conditions.
“These analyses showed the ability to predict a large range of human diseases on the basis of simple, inferences derived from large collections of human genes with already defined, well-known targets for their activity,” the team wrote.
“This study provided evidence that many genes may be reduced in using this technology.” Yun
Yun and his team want to be able to use these technologies as a potential biomarker to detect disease, and for assessing efficacy of drug therapies. Yun says that genetic information held in studies would be useful for this process in detecting or identifying disorders.
“[There would be] a good chance that within the span of such a study, you would be able to establish some of the genes that are mutated, and you can test genes that could be used for therapy development,” Yun says.
“We’re trying to do this work every week and give hundreds of samples.” Yun says.
Yun and his colleagues say that they plan to expand their use of these findings in the future and to explore new ways to make sure that patients receive the therapies for which they would have been cured in the past.
The study was a collaborative effort between science communication and clinical genetics departments at Columbia University Medical Center.