We are especially interested in energy metabolism, cellular nutrient metabolism, and diseases related to problems with these. Energy metabolism takes place in the mitochondria of cells. Mitochondrial diseases include heart, eye, muscle, liver, and brain diseases. Some of these manifest as Parkinson's disease, epilepsy, hearing problems, or diabetes. Mitochondrial disease can manifest with any symptoms at any age. These diseases give us clues to understanding, on a general level, why some tissues are spared from disease while others are affected. By understanding the mechanisms, we can develop tools for detecting and treating diseases at an early stage or even before they occur.
Our group is an international pioneer in metabolic reprogramming. This "metabolic bypass surgery" is an effective treatment when the target of treatment has been precisely identified.
Right now, we are investigating the following questions about metabolism and mitochondrial diseases:
1. What mechanisms explain the exceptional diversity of mitochondrial diseases, even though mitochondria are found in all our cells?
2. How can understanding these mechanisms help us to transfer or prevent the onset of the disease or halt its progression?
3. Can we learn about common forms of disease by studying mitochondrial diseases that manifest as, for example, Parkinson's disease, cardiomyopathy, retinal degeneration, or diabetes?
4. How does environmental stress (viruses, heat, lack of food or overeating, toxins such as alcohol and pollution) affect mitochondria and contribute to the onset of disease?
5. How can modifying energy metabolism reduce age-related degenerative diseases and add healthy years to life?
Recently, our research has provided additional information on the interaction between viruses and metabolism in the onset of severe epilepsy, vitamin B3 deficiency caused by the disease and its treatment, and metabolic bypass surgery as the basis for individualized treatment. Our findings have led to the development of new treatments and diagnostic tools, and thousands of patients around the world have found an explanation for their previously unknown disease.
The technology developed by our group, which can be used to measure the body's NAD+ (vitamin B3) metabolites from blood and other tissue samples, led to the creation of a start-up, NADMED Ltd, which serves researchers, clinical laboratories, and the pharmaceutical industry in more than 30 countries.
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