Friday, January 20, 2023

CRISPR-based strategy restores neurons affected by Rett syndrome

Rett syndrome is a rare, progressive neurodevelopmental disorder that typically affects girls, causing severe intellectual disability, loss of motor skills, and autism-like symptoms, and there is currently no cure. Rett syndrome is caused by a loss-of-function mutation in the X chromosome gene MECP2. Females typically have two copies of MECP2—one on each X chromosome—and in most cases of Rett syndrome, only one copy has the mutation. The disease occurs because the other, normal copy of MECP2 is turned off in neurons by a process called X chromosome inactivation.

Study reveals protein sirtuin 7 suppresses heat production in brown adipose tissue

Mammals convert the energy stored in adipose (fat) tissue into heat via a process known as thermogenesis. This process is regulated by a family of signaling proteins called sirtuins. A recent study by researchers from Kumamoto University reveals the mechanism through which the protein sirtuin 7 suppresses thermogenesis in mice. These findings may pave the way for new therapies that target diseases caused by metabolic dysregulation.

Study shows 'false balance' in media coverage of COVID vaccine requirement for organ transplant

When they launched their study, Timothy Caulfield and Marco Zenone could hardly have anticipated how the issue would capture headlines in Alberta.

Protective mutation shown to impair esophagus tumor growth

A protective mutation found in most cells in the human esophagus reduces tumor growth in mice, potentially highlighting new ways to prevent or treat cancer in similar tissues.

New drug candidate slows the progression of adrenoleukodystrophy

The work of Professor Fanny Mochel (AP-HP, Sorbonne University) at Paris Brain Institute, in collaboration with clinical research teams in eight countries and Spanish biotech Minoryx Therapeutics, has demonstrated the protective effects of leriglitazone in the progression of adrenoleukodystrophy—a rare genetic disease in which the white matter of the central nervous system is damaged. The results are published in The Lancet Neurology.

Study: Non-infectious diseases cause early death in Pakistan

Pakistan has considerable control over infectious diseases but now struggles against cardiovascular diseases, diabetes and cancer as causes of early deaths, according to a new study published Thursday.

UK health system faces biggest day of strikes next month

The UK's crisis-hit National Health Service (NHS) is set for its biggest ever day of industrial action next month after thousands of ambulance workers announced on Friday a series of new strikes.

Chinese turn to traditional remedies to fight COVID

As COVID-19 rips through China's vast population, making millions sick and fuelling a shortage of drugs, many are turning to old-school traditional medicines to battle the aches and pains of the virus.