A research team led by Saitama Medical University has succeeded in discovering a new causative gene for mitochondrial disease in collaboration with Tohoku University and others.We have made progress toward elucidating the full picture of the causes that are not yet well understood.

 Mitochondrial disease is an intractable hereditary disease in which the mitochondria that produce energy in the cell cause dysfunction, and it has been confirmed that there are about 700 patients in Japan.Only heavy cases are recognized, but it is expected that there will be more patients including minor cases.Symptoms appear in various organs throughout the body and progress rapidly, and there is currently no effective treatment.If the causative gene can be identified, it will lead to higher accuracy of diagnosis and development of therapeutic methods, but it is thought that there are many causative genes for mitochondrial disease.As many as 250 causative genes have already been discovered, but not all have been identified.

 This time, the research team conducted DNA analysis on 142 patients.As a result, there was an abnormality in a gene common to about 35% of patients.And it contained three previously unknown genes.Furthermore, it became clear that existing genes also contain many types of mutations that have never been seen before.

 Identifying the causative gene is an extremely important step in developing a cure for the disease.Even for mitochondrial diseases caused by the complex intertwining of abnormalities in multiple genes, if all of them can be identified, the policy for establishing a treatment method can be clarified.It can be said that the results obtained this time will contribute to the elucidation of the whole picture.It will lead to understanding of diseases, improvement of diagnostic techniques, and establishment of treatment methods.

Saitama Medical University

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