The mechanism underlying a severe, progressive childhood brain disease and an adult muscle disease was revealed by a recent Finnish study. The findings demonstrate for the first time that a cell’s energy-metabolic dysfunction can upset the equilibrium of its B vitamins, resulting in genetic alterations.
The study was led by MSc Joni Nikkanen in the research group of Professor Anu Suomalainen-Wartiovaara, University of Helsinki, and the results were published in a distinguished science journal, Cell Metabolism.
The mitochondria are the powerhouse of the cell, yet scientists are just just beginning to understand how B vitamins interact with them. Vitamin B9, or folate, transforms mitochondria into cellular constructors when food status is good.
Through the use of folate, mitochondria create substances that are used to create components for antioxidant synthesis, cell membrane renewal, and genome replication and repair. Other B-vitamins are also a part of the mechanism.
These results indicate for the first time that the energy-metabolic defect in a cell can shake its B-vitamin balance and lead to genetic changes. This information opens new routes in search for treatment, especially concerning specific forms of B-vitamins as specific modifiers of metabolic routes.Professor Anu Suomalainen
The study demonstrated that, regardless of nutrient intake, progressive mitochondrial myopathy, PEO disease, and infantile spinocerebellar ataxia, all of which are brought on by mitochondrial dysfunction, result in disturbed folate metabolism. This results in an imbalance of the components needed to make DNA, which in turn causes genetic damage and/or a reduction in the size of the mitochondrial genome.
“These results indicate for the first time that the energy-metabolic defect in a cell can shake its B-vitamin balance and lead to genetic changes. This information opens new routes in search for treatment, especially concerning specific forms of B-vitamins as specific modifiers of metabolic routes,” Professor Anu Suomalainen-Wartiovaara states.
Linus Pauling, who was twice awarded with Nobel prize, suggested in his late career stage that metabolic imbalance in a cell can cause a vitamin metabolic imbalance, irrespective of nutrient intake, and contribute to disease progression.
“The hypothesis was heavily criticized at the time. The current results of our study support Pauling’s original idea,” Wartiovaara-Suomalainen says.