Researchers from the University of Helsinki recently found that a vitamin B3 form might be effective in attenuating the progression of mitochondrial myopathy. The study is published in the journal EMBO Molecular Medicine.
Mitochondrial disorders are caused by respiratory chain deficiency (RCD) and are the most usual form of hereditary metabolic disorders. Mitochondrial myopathy (MM) is a progressive and often fatal condition. Development of mouse models replicating mitochondrial disease phenotypes has provided a unique opportunity both for therapeutic trials and for detailed studies of the molecular pathophysiology of primary mitochondrial dysfunction, however at the moment there are no available treatments for these diseases. Studies with mice models indicate that the defect in metabolic energy in adults’ muscle is interpreted as a state of starvation, despite normal nutrition, leading to “pseudo‐starvation” response. Research has also shown that one of these response mediators is the ratio of oxidized (NAD+) to reduced (NADH) nicotinamide adenine dinucleotide. cellular pathway
Since Vitamin B3 is a NAD+ precursor, Anu Suomalainen from the Neuroscience Research Centre University of Helsinki in Finland along with colleagues examined if by increasing NAD+ levels with nicotinamide riboside (NR) (a vitamin B3 form), it could cause a pathological change in mitochondrial myopathy (MM) or a delay in the disease progression.
In their study titled “Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3,” researchers gave mouse MM models,a pre-oral NR, a vitamin B3 form and a NAD+ precursor. They found that NR stimulated mitochondrial mass and function and was able to cure the structural defects of the mitochondria. At the same time, the researchers observed a delay in the accumulation of mitochondrial DNA mutations. They also found that MM pseudo‐starvation response is associated with a protective stress response from a mitochondrial unfolded protein response (called UPRmt) with induction of fasting cytokine, called FGF21. UPRmt was able to enhance NR and the researchers concluded that UPRmt plays a protective role in MM.
Based on these results, the researchers indicated that oral administration of vitamin cofactors such as NR might be beneficial and attenuate disease progression. Vitamin cofactors are able to modify metabolism and that treatment strategies increasing NAD+ should be explored in the patients with MM.