Lifeboat Foundation

The behavioral disorders observed in autism are associated with a multitude of genetic alterations. Scientists from the Hector Institute for Translational Brain Research (HITBR) have now found another molecular cause for this condition. The transcription factor MYT1L normally protects the molecular identity of nerve cells. If it is genetically switched off in human nerve cells or in mice, the functional changes and symptoms typical of autism occur. A drug that blocks sodium channels in the cell membrane can reverse the consequences of MYT1L failure and alleviate the functional and behavioral abnormalities in mice.

Disorders from the autism spectrum (ASD, autism spectrum disorders) are not only manifested by impairments in social interaction, communication, interest formation, and by stereotypical behavior patterns. This is often accompanied by other abnormalities such as epilepsy or hyperactivity.

Scientists are intensively searching for the molecular abnormalities that contribute to this complex developmental disorder. A multitude of genetic factors that influence the molecular programs of the nerve cells have already been linked to the development of autism.

A decades-old drug used to treat urinary tract infections (UTIs) appears to have saved the life of a man infected by the “brain-eating” amoeba — and his case highlights the tremendous potential of a new type of genetic sequencing technology.

The patient: In 2021, a 54-year-old man was admitted to a Northern California hospital following a seizure. After an MRI revealed a mass in his brain, he was transferred to the UCSF Medical Center, where the mass was biopsied.

Continue reading “‘Brain-eating’ amoeba beaten by old European drug” »

Scientists from the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, have removed a major roadblock to better understanding of mpox (formerly, monkeypox). They developed a mouse model of the disease and used it to demonstrate clear differences in virulence among the major genetic groups (clades) of mpox virus (MPXV).

The research, appearing in Proceedings of the National Academy of Science, was led by Bernard Moss, M.D., Ph.D., chief of the Genetic Engineering Section of NIAID’s Laboratory of Viral Diseases.

Historically, mpox, a disease resembling smallpox, was only occasionally transmitted from rodents to non-human primates or people, and was observed primarily in several African countries. Mpox rarely spread from person to person. That pattern changed in 2022 with an outbreak in which person-to-person mpox transmission occurred in more than 100 locations worldwide.

One question for Brad Ringeisen, a chemist and executive director of the Innovative Genomics Institute. Founded by Nobel Prize-winning biochemist Jennifer Doudna, it aims to bridge revolutionary gene-editing tool development to affordable and accessible solutions in human health and climate.

Will CRISPR cure cancer?

We’re always thinking about: What are those targets in the future? Cancer is one of those things. The biggest impact is going to be what’s called systemic delivery, or in vivo delivery. There’s been one example of this in the community right now—to treat a liver disease. Intellia Therapeutics, a biotech company, has shown that you can actually intravenously apply CRISPR-Cas9 treatment. (CRISPR is the guide RNA, the targeting molecule, and Cas9 is the cutting molecule that edits DNA.) It can go to the liver and target the liver cells, and make edits at a high enough efficacy to treat genetic liver disease. The problem is that the liver is the easiest. It’s like the garbage can of the body. Pretty much anything that you put into the body is ultimately going to find its way to the liver. So that’s absolutely the easiest tissue to deliver to. But trying to deliver to a solid tumor, or to the brain, is much more difficult.

An artificial intelligence program may enable the first simple production of customizable proteins called zinc fingers to treat diseases by turning genes on and off.

The researchers at NYU Grossman School of Medicine and the University of Toronto who designed the tool say it promises to accelerate the development of gene therapies on a large scale.

Illnesses including cystic fibrosis, Tay-Sachs disease, and sickle cell anemia are caused by errors in the order of DNA letters that encode the operating instructions for every human cell. Scientists can in some cases correct these mistakes with gene editing methods that rearrange these letters.

An exploration of the structure of deoxyribonucleic acid, or DNA. If you want to learn more, join our free MITx #700x Introduction to Biology course (http://bit.ly/700xBio) or our #703x Genetics (https://bit.ly/GeneticsPart1) Also try #705x Biochemistry. (http://bit.ly/705xBiochem) or our advanced #728x Molecular Biology course (http://bit.ly/MITx7281x). Learn more about our work: http://web.mit.edu/mitxbio/courses.html.

This video was created for MITx 7.28.1x Molecular Biology: DNA Replication & Repair, offered on edX.

Continue reading “The Structure of DNA” »

Amount of toxin present in wheat, which is carcinogenic when heated, can be reduced and grown, new field study confirms Toast could soon be healthier after scientists grew a field of wheat genetically-edited to remove a cancer-causing chemical. Bread, when baked, produces a dangerous toxin called acrylamide, which is believed to be carcinogenic and when toasted is even more lethal.

CRISPR has started moving out of university research laboratories and into the world of human clinical trials.

We are about to see the emergence of a new medical technology, genetic vaccines.

Enhancers change rapidly during evolution, but the mechanisms by which new enhancers originate in the genome are mostly unknown. Not all regions of the genome evolve at the same rate and mutations are elevated at late DNA replication time. To understand the role played by mutational processes in enhancer evolution, we leveraged changes in mutation rates across the genome. By examining enhancer turnover in matched healthy and tumor samples in human individuals, we find while enhancers are most common in early replicating regions, new enhancers emerged more often at late replicating regions. Somatic mutations in cancer are consistently elevated in enhancers that have experienced turnover compared to those that are maintained. A similar relationship with DNA replication time is observed in enhancers across mammalian species and in multiple tissue-types. New enhancers appeared almost twice as often in late compared to early replicating regions, independent of transposable elements. We trained a deep learning model to show that new enhancers are enriched for mutations that modify transcription factor (TF) binding. New enhancers are also typically neutrally evolving, enriched in eQTLs, and are more tissue-specific than evolutionarily conserved enhancers. Accordingly, transcription factors that bind to these enhancers, inferred by their binding sequences, are also more recently evolved and more tissue-specific in gene expression. These results demonstrate a relationship between mutation rate, DNA replication time and enhancer evolution across multiple time scales, suggesting these observations are time-invariant principles of genome evolution.

The authors have declared no competing interest.