Scientists develop new gene therapy for eye disease — ScienceDaily

Scientists from Trinity College Dublin have developed a new gene therapy approach that offers promise for one day treating an eye disease that leads to a progressive loss of vision and affects thousands of people across the globe.

The study, which involved a collaboration with clinical teams in the Royal Victoria Eye and Ear Hospital and the Mater Hospital, also has implications for a much wider suite of neurological disorders associated with ageing.

The scientists publish their results today [Thursday 26th November 2020] in leading journal, Frontiers in Neuroscience.

Dominant optic atrophy (DOA)

Characterised by degeneration of the optic nerves, DOA typically starts to cause symptoms in patients in their early adult years. These include moderate vision loss and some colour vision defects, but severity varies, symptoms can worsen over time and some people may become blind. There is currently no way to prevent or cure DOA.

A gene

Read More

Enzymatic photocaging for the study of gene regulation through DNA methylation — ScienceDaily

The addition and removal of methyl groups on DNA plays an important role in gene regulation. In order to study these mechanisms more precisely, a German team has developed a new method by which specific methylation sites can be blocked and then unblocked at a precise time through irradiation with light (photocaging). As reported in the journal Angewandte Chemie, the required regent is produced enzymatically, in situ.

Although they look very different and serve completely different functions, all cells in our body have identical DNA. However, they do not use the same genes. Certain genes are turned on and others off, depending on the type of cell and the moment in time. The “switches” are chemical changes in the building blocks of the DNA. These changes are called epigenetic modifications. One significant regulation mechanism is methylation and demethylation, meaning the attachment and removal of a methyl group (-CH(3)). The

Read More

CLCN6 identified as disease gene for a severe form of lysosomal neurodegenerative disease — ScienceDaily

A mutation in the CLCN6 gene is associated with a novel, particularly severe neurodegenerative disorder. Scientists from the Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP) and the Max Delbrück Center für Molekulare Medizin (MDC), together with an international team of researchers, have now analyzed the effect of a point mutation that was found in three unrelated affected children. ClC-6 is one of nine members of the CLCN gene family of chloride channels and chloride/proton exchangers and, apart from ClC-3, was the only one that could not yet be associated with any human disease. The results have just been published in the American Journal of Human Genetics.

The term “lysosomal storage disease” summarizes a number of genetically determined metabolic diseases that are due to incorrect or insufficient function of lysosomes. These cellular organelles are important both as “cellular waste disposal” and for the regulation of cellular metabolism. If lysosomal function is compromised,

Read More

Scientists discover gene that directs spur development, name it after NBA Spurs coach — ScienceDaily

When it came to naming a gene that could lead to new insights on a crucial feature of evolution, the Harvard Organismic and Evolutionary Biology alumna leading the project aimed for something rather tongue in cheek. She called it POPOVICH, after San Antonio Spurs coach and president Gregg Popovich.

Evangeline Ballerini, Ph.D. ’10, an assistant professor of biological sciences at California State University, Sacramento, said she and her collaborators — including Harvard’s Elena Kramer — settled on the name because the newly discovered gene calls the shots for floral nectar spurs the way Popovich does for his NBA team.

“I ended up choosing to name it after Gregg Popovich, in part, because the gene plays a regulatory role in spur development, kind of like a coach controls the development of their team,” said Ballerini, who is a long-time Golden State Warriors fan and a part-time Celtics fan because of her

Read More

Dry food or raw? Diet affects skin gene expression in both healthy and atopic dogs — ScienceDaily

Researchers from the University of Helsinki, Finland, examined 48 Staffordshire Bull Terriers, of which eight dogs — four healthy and four atopic — were selected for RNA sequencing where their skin gene expression was compared between both atopic and healthy dogs as well as between dogs that ate dry food or raw food.

The diet appears to make a great difference in skin gene expression.

“Before the dietary intervention comparing atopic and healthy dogs, only a total of eight genes functioning in a range of ways in the skin were found, but the intervention increased this figure manifold. In other words, dietary intervention is extremely important for actual differences in gene expression to emerge,” says researcher Johanna Anturaniemi from the Faculty of Veterinary Medicine, University of Helsinki.

The effect of the diet on skin gene expression was mostly associated with the immune system, antioxidants and inflammatory processes. Raw food appeared

Read More

Researchers show safer, more targeted way to deliver CRISPR gene therapy — ScienceDaily

Light-activated liposomes could help to deliver CRISPR gene therapy — and the method could prove safer and more direct than current methods.

A multi-institutional team involving biomedical engineers and scientists from UNSW Sydney found that liposomes — commonly used in pharmacology to encapsulate drugs or genes — can be triggered by light to release the payload in a specific site of the body.

The team, which reported the findings today in ACS Applied Materials and Interfaces, demonstrated their results in cell lines and animal models, with more research needed to test and confirm their method in humans.

Up until now, CRISPR gene therapy technology, which uses a guide RNA to seek out faulty gene sequences and a Cas9 protein to cut or replace it with healthy versions, has used viruses loaded with the CRISPR molecules that then move through the body to find the targeted cells.

While the technology

Read More

TMDU and Fujitsu complete cancer gene network analysis in less than a day

Tokyo Medical and Dental University (TMDU) and Fujitsu Laboratories Limited have recently completed, in less than a day, estimation of the network that represents the influence relationship between genes and prediction of their relationship with infiltration and metastasis based on genes highly likely to be involved in cancer development.

TMDU and Fujitsu achieved this leveraging Fujitsu Laboratories’ explainable AI technology “Deep Tensor” (1) with the world’s fastest supercomputer, Fugaku (2), which was jointly developed by RIKEN and Fujitsu. The project was conceived under the theme of “elucidation of the cause and diversity of cancer using large-scale data analysis and AI technology” as part of the supercomputer Fugaku achievement acceleration program (3) being promoted by Japan’s Ministry of Education, Culture, Sports, Science and Technology from May 2020 to March 2023.

Even with supercomputers available at universities, it previously took several months to extract network structures representing the behavior

Read More

Gene signature predicts whether localized prostate cancer is likely to spread — ScienceDaily

Researchers have identified a genetic signature in localized prostate cancer that can predict whether the cancer is likely to spread, or metastasize, early in the course of the disease and whether it will respond to anti-androgen therapy, a common treatment for advanced disease. The new gene signature may also be useful for evaluating responses to treatment and for developing new therapies to prevent or treat advanced prostate cancer.

“If we could know in advance which patients will develop metastases, we could start treatments earlier and treat the cancer more aggressively,” says the study’s senior author, Cory Abate-Shen, PhD, chair of the Department of Molecular Pharmacology and Therapeutics, the Michael and Stella Chernow Professor of Urologic Sciences (in Urology), and professor of pathology & cell biology (in the Herbert Irving Comprehensive Cancer Center) at Columbia University Vagelos College of Physicians and Surgeons.

“Conversely, patients whose disease is likely to remain confined

Read More

Study reveals a previously unknown function of a human gene — ScienceDaily

A genetic disposition that plays a role in the development of the heart in the embryo also appears to play a key role in the human immune system. This is shown by a recent study led by the University of Bonn (Germany). When the gene is not active enough, the immune defense system undergoes characteristic changes, causing it to lose its effectiveness. Doctors speak of an aging immune system, as a similar effect can often be observed in older people. In the medium term, the results may contribute to reduce these age-related losses. The study is published in the journal Nature Immunology.

The gene with the cryptic abbreviation CRELD1 has so far been a mystery to science. It was known to play an important role in the development of the heart in the embryo. However, CRELD1 remains active after birth: Studies show that it is regularly produced in practically

Read More

New insight into a placental gene pathway and its association with vitamin D — ScienceDaily

According to the World Health Organization, preeclampsia affects between 2% to 8% of pregnancies. It can cause serious, sometimes fatal, complications in the mother and child. Among other risk factors, such as obesity and diabetes, vitamin D deficiency during pregnancy has been associated with an increased risk of preeclampsia.

In an article in Pregnancy Hypertension, a team of researchers at the Medical University of South Carolina (MUSC) found that expression of a set of genes previously studied in the setting of early onset and severe preeclampsia is significantly affected by vitamin D status during late-stage pregnancy.

Exactly how preeclampsia develops is unclear. Recent evidence points to poor development of blood vessels in the placenta — the organ that nourishes the fetus throughout pregnancy. This leads to hypertension and several other complications in the mother. The only cure for preeclampsia is to deliver the fetus, which can be dangerous if

Read More