May 8, 2024
Keio University School of Medicine
Tohoku University Tohoku Medical Megabank Organization
National Center for Child Health and Development
A research group led by Professor Satoshi Narumi from the Department of Pediatrics, Keio University School of Medicine, Professor Gen Tamiya and Associate Professor Jun Takayama from the Division of Genome Analysis, Tohoku University Tohoku Medical Megabank Organization, and Dr. Kazuhiko Nakabayashi, Head of the Department of Perinatal Pathology, National Center for Child Health and Development, conducted a study on Japanese patients with congenital hypothyroidism and identified that a non-coding genomic abnormality on chromosome 15 is involved in the onset of the disease. Previously, the cause was unknown in over 90% of familial cases of congenital hypothyroidism, but the study revealed that 75% of these cases are caused by this abnormality. It was also found that in adults, this genomic abnormality causes adenomatous goiter. Analysis of samples from the Tohoku Medical Megabank Organization showed that the frequency of this abnormality among participants in a general population survey was approximately 1 in 12,000.
While non-coding genomes were previously thought to have little to no function, this study has shown for the first time in the world that a high-frequency abnormality, observable even in the general population, exists in both congenital and adult diseases. By applying similar research methods to hereditary diseases of unknown cause, it is expected that the understanding of the functions of non-coding genomes will advance. These findings were published in the online edition of Nature Genetics on May 7, 2024 (U.S. Eastern Standard Time).
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