June 2, 2023
National Hospital Organization Tokyo Medical Center
Keio University School of Medicine
A research group led by Dr. Tatsuo Matsunaga, Director of the Department of Hearing and Balance Research, Clinical Research Center, National Hospital Organization Tokyo Medical Center, and Associate Professor Naoki Oishi of the Department of Otorhinolaryngology, Head and Neck Surgery, Keio University School of Medicine, analyzed the pathogenic gene variants (mutations) in 14 Japanese cases of Neurofibromatosis type 2 (NF2), a rare hereditary disease, and compared the results with the patients' clinical course. NF2 is a disease characterized by the development of tumors on the auditory nerves that transmit sound to the brain on both sides, leading to hearing loss in both ears. In this study, in addition to the age of onset and tumor size, the clinical course of hearing was examined in detail. The results of the study showed a correlation between the type of gene variant and the age of onset. In the group of cases with truncating variants, which prevent the production of protein from the gene, all cases developed the disease before the age of 20. On the other hand, no consistent trend was observed for tumor growth rate or rate of hearing deterioration for each type of gene variant. Furthermore, even in the same case, tumor growth and hearing deterioration were sometimes asymmetrical between the right and left ears, suggesting that factors other than the type of gene variant influence tumor size and changes in hearing. It is hoped that clarifying these factors will lead to a further understanding of the pathophysiology of the disease. The results of this research were published in the online edition of Scientific Reports , a Nature Publishing Group journal, on April 22, 2023 (UK time).
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