Lifeboat Foundation

Hereditary hearing loss is one of the most common disabilities among newborns, affecting approximately 1 in 1000 live-born babies. Most forms of hereditary hearing loss are nonsyndromic; 80% of affected newborns have hearing loss that is inherited in an autosomal recessive pattern, and in the remaining 20%, inheritance shows a dominant pattern.¹

Many forms of hereditary hearing loss are caused by mutations in genes that affect the formation and function of cochlear hair cells — highly specialized sensory cells that play an important role in the detection and processing of sound.¹ The hair cell has bundles of hair-like projections, called stereocilia, on its apical surface ( Fig. 1 ). The deflection of these bundles by sound results in the opening of mechanotransduction ion channels, which are located at the tips of the stereocilia, and consequently, in the depolarization of the hair-cell membrane. Mutations that affect the protein transmembrane channel-like 1 (TMC1), an integral component of the mechanotransduction complex, cause autosomal dominant and autosomal recessive forms of hearing loss.² Correction of the dominant form of hearing loss in a mouse model of Tmc1 (termed “Beethoven”) was recently reported by Gao and colleagues.³

Circa 2019 face_with_colon_three

Scientists at Harvard Medical School and Boston Children’s Hospital have used a novel gene-editing approach to salvage the hearing of mice with genetic hearing loss and succeeded in doing so without any apparent off-target effects as a result of the treatment.

NSD2 is the fourth protective factor of cellular senescence that our team has identified,” said Professor Mitsuyoshi Nakao. “With the discovery that NSD2 protects against cellular senescence, this study clarifies a basic mechanism of aging.

Researchers from Kumamoto University in Japan have used comprehensive genetic analysis to find that the enzyme NSD2, which is known to regulate the actions of many genes, also works to block cell aging. Their experiments revealed 1) inhibition of NSD2 function in normal cells leads to rapid senescence and 2) that there is a marked decrease in the amount of NSD2 in senescent cells. The researchers believe their findings will help clarify the mechanisms of aging, the development of control methods for maintaining NSD2 functionality, and age-related pathophysiology.

As the cells of the body continue to divide (cell reproduction), their function eventually declines and they stop growing. This cellular senescence is an important factor in health and longevity. Cell aging can also be stimulated when genomic DNA is damaged by physical stress, such as radiation or ultraviolet rays, or by chemical stress that occurs with certain drugs. However, the detailed mechanisms of aging are still unknown. Cell aging can be beneficial when a cell becomes cancerous; it prevents malignant changes by causing cellular senescence. On the other hand, it makes many diseases more likely with age. It is therefore important that cell aging is properly controlled.

Continue reading “NSD2 shapes the program of cell senescence [image] Science News” »

What determines whether a genetically modified vegetable or fruit is natural?

A small DNA-testing company that just months ago was trying to get its footing in consumer genetics is now part of an effort to make U.K. hospitals safer during the pandemic.

The company, DnaNudge, won a 161-million pound ($211 million) order for 5,000 machines and a supply of cartridges to test patients for the new coronavirus in hundreds of the National Health Service hospitals.

Circa 2019

A common gene-editing enzyme could be used to disable RNA viruses such as flu or Ebola.

Researchers from the Icahn School of Medicine used a novel genetic sequencing technology to identify the genetic cause of—and a treatment for—a previously unknown severe auto inflammatory syndrome affecting an 18-year-old girl since infancy.

The technology, tailored to the patient’s own genetic code at a single cell level, helped the researchers characterize an unknown mutation in a gene called JAK1 that caused the patient’s immune system to be permanently turned on, resulting in rashes over much of her skin, growth abnormalities, kidney failure, allergic hypersensitivities, and an unusual inflammatory condition throughout the digestive tract.

The study, led by Dusan Bogunovic, Ph.D., Associate Professor of Microbiology, and Pediatrics, at the Icahn School of Medicine at Mount Sinai, faculty member of The Mindich Child Health and Development Institute and the Precision Immunology Institute at Mount Sinai, and Director of the Center for Inborn Errors of Immunity, was published in the August 3 issue of the journal Immunity. The discovery points toward new ways to study how genetic diseases manifest and presents a model of personalized diagnosis and treatment for patients with genetic diseases.

The advent of DNA sequencing has given scientists a clearer insight into the interconnectedness of evolution and the web-like path that different organisms take, splitting apart and coming back together. Tony Capra, associate professor of biological sciences, has come to new conclusions about the influence of Neanderthal DNA on some genetic traits of modern humans.

The article “Neanderthal introgression reintroduced functional ancestral alleles lost in Eurasian populations” was published in the journal Nature Ecology & Evolution on July 27.

The ancestors of all modern humans lived across the African continent, until approximately 100,000 years ago when a subset of humans decided to venture further afield. Neanderthals, an extinct relative of modern humans, had been longtime residents of Europe and central and south Asia; their ancestors had already migrated there 700,000 years previously. The humans who moved into central Asia and the Middle East encountered and reproduced with Neanderthals. Neanderthal DNA is present in some modern humans, and now research shows that can sometimes be a good thing.

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What is CAR-T therapy?

CAR-T therapy involves genetically engineering patient T-cells so that they express a chimeric antigen receptor (CAR).

Continue reading “Universal ‘One-Size-Fits-All’ Cancer Treatment” »