ChromaDex and the Citrin Foundation announce global research collaboration exploring citrin deficiency

ChromaDex External Research Program (CERP) and the Citrin Foundation to collaborate on series of studies exploring rare disease citrullinemia

ChromaDex Corp. today announced a new research initiative with the Citrin Foundation of Singapore to study the effects of Niagen® nicotinamide riboside (NR) and citrin deficiency, a rare genetic condition. In collaboration with the ChromaDex External Research Program (CERP™) and leading research institutions, the Citrin Foundation will fund a series of preclinical and clinical studies to explore the potential impact of increased NAD+ levels on patients with citrin deficiency. The first study, led by Prof. Paul M. Yen and other scientists at Duke-NUS Medical School in Singapore, will examine the ability of NR to impact mitochondrial function, lipid accumulation, inflammation, and fibrosis in the liver using preclinical models of citrin deficiency.

“Citrin deficiency impairs mitochondrial function and disrupts the NAD+ system, leading to adverse effects on tissues such as the liver,” says Professor Sir John Walker, Nobel Laureate and Emeritus Director, MRC Mitochondrial Biology Unit in the University of Cambridge, England, and member of the ChromaDex Scientific Advisory Board (SAB). “Although there is as yet no cure for this genetic condition, understanding whether and to what extent augmenting cellular NAD+ levels may offset the impaired mitochondrial function are important research questions to address.”

Citrin deficiency is a rare genetic condition that may cause increased levels of ammonia in the blood under certain circumstances. This rare genetic condition could be life-threatening without proper diagnosis and diet management. It could most commonly cause neonatal cholestasis in newborns, failure to thrive in children or in relatively rare instances, CTLN2, its most severe form, later in life, causing a host of neurological problems, hyperlipidemia, and severely impaired liver function. NAD+ levels are implicated in the proper function of metabolically active cells and tissues. This new research collaboration will deepen the understanding of NAD+ and citrin deficiency.

“The Foundation is committed to providing support at the foundational research level as well as support for patients and their families,” says Citrin Foundation co-founder Barbara Yu. “We are proud to work with the scientific innovators at ChromaDex and researchers at leading institutions around the world to find more answers to this life-threatening condition.”

“We are very excited to work together with ChromaDex and the Citrin Foundation to understand the role of NAD+ in citrin deficiency. We hope that our research will not only lead to better understanding and treatment of citrin deficiency, but also other genetic mitochondrial disorders and non-alcoholic fatty liver disease,” says Prof. Paul M. Yen from Duke-NUS Medical School.

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