Scientists identify nine genetic variants that could have helped a man to avoid dementia for at least two decades longer than expected.
Category: genetics – Page 50
Yale Scientists Just Cracked the DNA Code That Built the Human Brain
Scientists explored Human Accelerated Regions (HARs), genetic regulators that tweak existing genes rather than introducing new ones. Using cutting-edge techniques, they mapped nearly all HAR interactions, revealing their role in brain development and neurological disorders like autism and schizophrenia.
Decoding the Genetic Evolution of the Human Brain
A new Yale study offers a deeper understanding of the genetic changes that shaped human brain evolution and how this process differed from that of chimpanzees.
Robot acrobatics: Mammal tails offer surprising design insights
Evolution is traditionally associated with a process of increasing complexity and gaining new genes. However, the explosion of the genomic era shows that gene loss and simplification is a much more frequent process in the evolution of species than previously thought, and may favor new biological adaptations that facilitate the survival of living organisms.
This evolutionary driver, which seems counter-intuitive—” less is more” in genetic terms—now reveals a surprising dimension that responds to the new evolutionary concept of “less, but more,” i.e., the phenomenon of massive gene losses followed by large expansions through gene duplications.
This is one of the main conclusions of an article published in the journal Molecular Biology and Evolution, led by a team from the Genetics Section of the Faculty of Biology and the Institute for Research on Biodiversity (IRBio) of the University of Barcelona, in which teams from the Okinawa Institute of Science and Technology (OIST) have also participated.
A New Approach Solves Hundreds of Patient Mysteries
Scientists have provided a diagnosis for more than 500 European patients who did not know their condition. This work, which was performed by the Solving the Unsolved Rare Diseases (Solve-RD) consortium and was highly collaborative, has been reported in Nature Medicine.
In the European Union, a rare disorder is defined as one that occurs in fewer than five of 10,000 people. Genetic mutations are the cause of most of these rare disorders, but genetic sequencing cannot always provide an easy answer.
New Blood Test Can Diagnose Multiple Cancers, Even at Early Stages
When cancer is detected earlier, it can improve outcomes for patients. Liquid biopsies are one way to improve cancer detection; these tests can analyze DNA in blood samples, which can reveal the presence of tumors because of circulating tumor DNA (ctDNA). Usually, genetic sequencing is used to assess this DNA, but that usually only identifies some types of cancers. Scientists have now created a new blood test called TriOx, which can analyze ctDNA in multiple ways and detect six types of cancer. The work has been reported in Nature Communications.
Usually, the analysis of ctDNA only focuses on one feature of the genome such as small variations in the DNA sequence that can reveal cancer, but TriOx uses an advanced tool called whole-genome TAPS (TET-Assisted Pyridine Borane Sequencing), which was combined with machine learning. This technique can analyze genetic as well as epigenetic features of DNA, like methylation.
The Aged Microbiome Drives Inflammation, And Inflammation Drives Microbiome Dysbiosis
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Several Psychiatric Disorders Share The Same Root Cause, Study Reveals
Researchers recently discovered that eight different psychiatric conditions share a common genetic basis.
A new study has now honed in on some of those shared genetic variants to understand their properties. They found many are active for longer during brain development and potentially impact multiple stages, suggesting they could be new targets to treat multiple conditions.
“The proteins produced by these genes are also highly connected to other proteins,” explains University of North Carolina geneticist Hyejung Won. “Changes to these proteins in particular could ripple through the network, potentially causing widespread effects on the brain.”
A New Kind of Epigenetic Gene Control is Revealed
The expression of genes has to be carefully regulated in cells; active genes give cells their identity and ability to function. Epigenetic features are just one way that cells control gene expression, and they do so without altering the sequence of genes. These may involve chemical groups like methyl tags that adorn DNA, or structural characteristics that relate to proteins that organize DNA. But scientists have also been learning about how epigenetics affect RNA. New findings on a balancing act in epigenetics, which works on DNA and RNA, have been reported in Cell.
When genes are expressed, they are transcribed into messenger RNA (mRNA) molecules. The cell can then translate those mRNA molecules into proteins, which carry out a variety of functions. Scientists have identified an epigenetic mechanism that seems to balance gene expression. One facet of the mechanism can promote the transcription and organization of genes, while the other causes mRNA transcripts to lose stability, and can adjust how those transcripts are used. This work has shown that DNA and RNA epigenetics may be more closely linked than known.