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Category: genetics – Page 15

Researchers at Washington University School of Medicine in St. Louis have conducted a longitudinal study on an individual carrying the presenilin 2 (PSEN2) p. Asn141Ile mutation, a genetic variant known to cause dominantly inherited Alzheimer’s disease (DIAD). The high risk individual, despite being 18 years past the expected age of clinical onset, has remained cognitively intact. Researchers investigated genetic, neuroimaging, and biomarker data to understand potential protective mechanisms.

Unlike typical DIAD progression, in this case was confined to the occipital lobe without spreading, suggesting a possible explanation for the lack of cognitive decline.

DIAD results from highly penetrant mutations in (APP), presenilin 1 (PSEN1), or PSEN2, which lead to abnormal amyloid-β processing and early-onset Alzheimer’s disease. The Dominantly Inherited Alzheimer Network (DIAN) was established to track DIAD mutation carriers and assess clinical, cognitive, and biomarker changes over time.

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They say that change takes time. Well, that’s not the case for RNA. The small biological molecule acts like a switchboard operator, capable of changing its shape every few milliseconds so it can manipulate biological functions in the body. It has big jobs to carry out, after all, like copying genetic information into every living cell and activating the immune response.

A new multidisciplinary study from biophysicists and virologists at the UNC School of Medicine challenges this idea of shape-shifting RNA. Helen Lazear, Ph.D., associate professor of microbiology and immunology, and Qi Zhang, Ph.D., professor of biochemistry and biophysics, have discovered that a type of RNA in Zika virus, a mosquito-borne virus, can essentially freeze itself in time in an effort to make more copies of itself and further its spread in the body.

Their findings have not only sent ripples through the field of virology, but it has also given researchers new ammunition in the fight against RNA viruses. Their study, which was published in Nature Chemical Biology, paves the way for new therapies that can “unfreeze” these RNA structures to combat other mosquito-borne RNA viruses.

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For decades, people believed absolute pitch was an exclusive ability granted only to those with the right genetics or early music training. But new research from the University of Surrey proves otherwise. It’s been a long-held belief that absolute pitch — the ability to identify musical notes without a reference — is a rare talent limited to those with specific genetic traits or early musical training. However, new research from the University of Surrey challenges this idea, showing that adults can develop absolute pitch through dedicated training.

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While the trial is limited to members of families with genetic mutations that all but guarantee they will develop Alzheimer’s at a young age, typically in their 30s, 40s or 50s, the researchers expect that the study’s results will inform prevention and treatment efforts for all forms of Alzheimer’s disease.

Called the Primary Prevention Trial, the new study investigates whether remternetug — an investigational antibody being developed by Eli Lilly and Company — can remove plaques of a key Alzheimer’s protein called amyloid beta from the brain or block them from accumulating in the first place. Both genetic and nongenetic forms of Alzheimer’s disease start with amyloid slowly collecting in the brain two decades before memory and thinking problems arise. By clearing out low levels of amyloid beta plaques or preventing them from accumulating during the early, asymptomatic phase of the disease, or both, the researchers hope to interrupt the disease process at the earliest stage and spare people from ever developing symptoms.

“We have seen tremendous progress in the treatment of Alzheimer disease in the past few years,” said Eric McDade, DO, a professor of neurology and the trial’s principal investigator. “Two amyloid-targeting drugs were shown to slow symptoms of the disease and have now been approved by the Food and Drug Administration (FDA) as treatments for people with mild cognitive impairment or mild dementia due to Alzheimer’s disease. This provides strong support for our hypothesis that intervening when amyloid beta plaques are at the very earliest stage, long before symptoms arise, could prevent symptoms from emerging in the first place.”

The trial is part of the Knight Family Dominantly Inherited Alzheimer Network-Trials Unit (Knight Family DIAN-TU), a clinical trials platform designed to find medicines to prevent or treat Alzheimer’s disease. It is closely associated with DIAN, a National Institutes of Health (NIH)-funded international research network led by WashU Medicine that involves research institutes in North America, Australia, Europe, Asia and South America. DIAN follows families with mutations in any of three genes that cause Alzheimer’s at a young age. A child born into such a family has a 50% chance of inheriting such a mutation, and those who do so typically develop signs of dementia near the same age his or her parent did. All the participants in the Primary Prevention Trial come from such families.

“My grandfather passed away from Alzheimer’s, and so did his mother and all but one of his brothers,” said Hannah Richardson, 24, a participant in the Primary Prevention Trial. “My mom and my uncle have been participating in DIAN trials since I was about 10 years old. My mom was always very open about her diagnosis and how it spurred her advocacy for Alzheimer’s research, and I’ve always known I wanted to follow in her footsteps. I am happy to be involved in the Primary Prevention Trial and be involved in research because I know how important it is.”

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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.

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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.

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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.

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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.

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