A team at the Centre de recherche Azrieli du CHU Sainte-Justine has reached a major milestone in understanding a rare and severe form of genetic encephalopathy associated with the DHDDS gene.

A team at the Centre de recherche Azrieli du CHU Sainte-Justine has reached a major milestone in understanding a rare and severe form of genetic encephalopathy associated with the DHDDS gene. By developing the first mouse model that faithfully reproduces one of the human forms of the disease, researcher Alexey Pshezhetsky, a professor in the Department of Pediatrics, and Dr. Elsa Rossignol, a professor in the Department of Neuroscience, both at UdeM, provide the scientific community with an unprecedented tool to investigate the biological mechanisms underlying this neurodevelopmental disorder and accelerate the development of new therapeutic strategies.

Da Silva et al. develop the first mouse model of DHDDS-related progressive epileptic encephalopathy, showing that a disease-causing Dhdds variant produces

Dehydrodolichyl diphosphate synthase (DHDSS)-related disease has no available treatments. The new work could finally change that with nicotinamide mononucleotide (NMN).

Research using mini-brains shows that vitamin B3 may slow the progression of a rare childhood neurodegenerative disease caused by mutations in the DHDDS gene. ...

A form of vitamin B3 known as nicotinamide mononucleotide was found to slow disease progression in patients with a rare mutation in the DHDDS gene

A form of vitamin B3 known as nicotinamide mononucleotide was found to slow disease progression in patients with a rare mutation in the DHDDS gene

Variants in the DHDDS gene cause a severe neurodegenerative condition, characterized by tremors, seizures, coordination and learning difficulties, usually manifesting in early childhood. This Parkinson's-like condition is extremely rare, and until recently, parents were told there was nothing that could be done to slow its progression. But now, researchers from the Netherlands and the U.S. who created "mini brain" models from patients' own cells to test new therapies have found not only the mechanism of the disease, but also that a naturally occurring form of vitamin B3 (nicotinamide mononucleotide, or NMN) holds significant promise in slowing disease progression. Presenting the results to the annual conference of the European Society of Human Genetics today, Dr. Irena Muffels, a clinical genetics resident at the Wilhelmina Children's Hospital, Utrecht, the Netherlands, described how two parents contacted researchers at the Icahn School of Medicine at Mount Sinai, New York, U.S., where she was working at the time in the Morava-Kozicz lab. They had been told that the only hope for their two children, who had been diagnosed with DHDDS-related disease, was to wait for researchers to take an interest in the rare disorder. "But they didn't want to wait," says Dr. Muffels. "They didn't...

A Breakthrough in Combating DHDDS-Related Neurodegenerative Disease: How Mini-Brains Illuminate Pathways to a Vitamin B3 Therapy In a groundbreaking advancement within neurogenetics, researchers have

Research using mini-brains shows that vitamin B3 may slow the progression of a rare childhood neurodegenerative disease caused by mutations in the DHDDS gene. ...

Variants in the DHDDS gene cause a severe neurodegenerative condition, characterized by tremors, seizures, coordination and learning difficulties, usually manifesting in early childhood. This Parkinson's-like condition is extremely rare, and until recently, parents were told there was nothing that could be done to slow its progression. But now, researchers from the Netherlands and the U.S. who created "mini brain" models from patients' own cells to test new therapies have found not only the mechanism of the disease, but also that a naturally occurring form of vitamin B3 (nicotinamide mononucleotide, or NMN) holds significant promise in slowing disease progression.

Help James Edwards raise money to support Cure DHDDS

Help James Edwards raise money to support Cure DHDDS

Help James Edwards raise money to support Cure DHDDS

N-glycosylation, driven by the cis-prenyltransferase (cis-PT) complex, a NUS1 and DHDDS heterotetramer, is vital for proteome integrity. Despite being linked to severe congenital disorders of glycosyl...

Discover new findings on DHDDS Variants and Epilepsy Insights from Japanese patients, revealing crucial links to severe epilepsy and movement disorders.