ECHS1

In recent years, the study of NMN (nicotinamide mononucleotide) has attracted wide attention, and its potential role in regulating heart health has been gradually revealed. Recent studies have shown that NMN can effectively inhibit the development of cardiomyopathy and provide protection for heart health. NMN (nicotinamide mononucleotide) is a key metabolite that has attracted much attention in the healthcare and medical fields in recent years. As a precursor of NAD+, NMN can increase the level of NAD+ in cells. NAD+ is a vital coenzyme that plays a central role in key life processes such as cell energy metabolism, DNA repair, and gene expression regulation. NMN exerts various physiological functions by maintaining the stable state of NAD+. As we age, the level of NAD+ in the body gradually declines, which is thought to be a key factor in aging. By increasing the level of NAD+, NMN helps to delay the aging process and improve a variety of age-related physiological disorders. NMN can improve the NAD+ homeostasis of the heart and alleviate age-related pathological and physiological changes. Studies have shown that NMN can effectively inhibit the development of certain cardiomyopathy models, thereby protecting heart health. In addition, NMN has also shown certain effects in improving glucose and lipid metabolism, enhancing neuroprotection, and improving immune function, making it a multifunctional health substance with wide potential. With its key role in energy regulation, cell protection and more, NMN is becoming a rising star in the field of anti-aging and health management. In the future, the application prospects of NMN in the pharmaceutical and health industry are highly anticipated. The study, carried out by a medical team at Fudan University, is one of the latest. Using mouse models lacking the Echs1 gene, the researchers found that the deletion of the gene leads to myocardial fibrosis, which in turn triggers heart dysfunction. However, when these mice were fed a diet containing NMN, cardiac systolic function was significantly improved and myocardial fibrosis was inhibited. Mechanism studies have shown that NMN can increase the content of Echs1 in the heart, promote the binding of Echs1 and p300, reduce the transfer of p300 to the nucleus, and thus regulate the level of chromatin acetylation, and ultimately inhibit the cardiomyopathy caused by Echs1 loss. This finding provides new evidence for the use of NMN in cardiac protection. For those with cardiomyopathy whose quality of life is severely affected, NMN may become a new treatment option. Looking forward to the future, the application prospect of NMN in the field of heart health care is full of expectations.

Rare disease public benefit company Perlara is collaborating with Vivan Therapeutics to identify new medicines for rare genetic diseases. The collaboration will see Perlara referring patients with specific rare diseases to Vivan Therapeutics in order to potentially find new treatments. Vivan’s Personal Discovery Process (PDP) technology is used to develop in vivo models of personalised fruit flies, which they call ‘avatars’. The company then uses robotics to screen thousands of FDA approved drugs, along with other drug libraries to identify potential therapeutics. Vivan Therapeutics’ chief scientific officer Dr Nahuel Villegas said: "Our fruit fly in vivo models are specifically designed to identify novel and unlikely therapies for diseases with clear genetic components. In this exciting collaboration with Perlara we will employ our unique platform to run massive drug screenings to define therapeutic options for diseases with no current standard of care treatments." The first two diseases to be modelled are MAN1B1-CDG (congenital disorder of glycosylation) and ECHS1 deficiency, both of which have no treatments. The ECHS1 gene and MAN1B1 gene are very well conserved in fruit flies. Individuals with MAN1B1-CDG have two deficient copies of the MAN1B1 gene. Individuals with MAN1B1-CDG typically develop signs and symptoms of the condition during infancy, including a broad array of phenotypic abnormalities such as developmental disability, decreased muscle tone (hypotonia), delayed motor skills, and behavioural problems among others. ECHS1 deficiency is a rare congenital metabolic disorder caused by biallelic mutations in the ECHS1 gene. Individuals with this mitochondrial condition typically have signs and symptoms of developmental delay, dystonia, seizures, and brain abnormalities. Ethan Perlstein, CEO of Perlara said: "We're excited to be working with Vivan on developing fly avatars of monogenic inborn errors of metabolism for rapid turnaround personalized drug repurposing. Flies are at the sweet spot of disease model complexity and clinical translatability." Laura Towart, CEO of Vivan Therapeutics added: "This collaboration is our first outside of oncology and will enable us to utilise our platform technology to potentially identify therapeutics for diseases for which there are no treatments. We are looking forward to embarking on this important mission with Perlara and the families."