ArticleProceedings of the Japan Academy. Series B, Physical and biological sciences2024
The discovery of acatalasemia (lack of catalase in the blood) and its significance in human genetics.
Article in Proceedings of the Japan Academy. Series B, Physical and biological sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Iron Chelation Reduces Intracellular Hydroxyl Radicals in Normal Human Dermal Fibroblasts Independently of Aging.Antioxidants (Basel, Switzerland) · 2025Article
- Sirtuins Contribute to the Migraine-Stroke Connection.International journal of molecular sciences · 2025Review
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Abstract
Catalase, a heme-containing antioxidant enzyme, was once considered essential for human survival. It is widely distributed in the human body and is particularly abundant in red blood cells. The term "acatalasemia" first appeared in the Proceedings of the Japan Academy in 1951, drawing global attention to families genetically deficient in catalase. This deficiency not only altered the significance of catalase but also played a pioneering role in human genetics during an era of limited genetic methodology. In this article, we examine the discovery of acatalasemia by an otolaryngologist during surgery on an 11-year-old girl. This remarkable journey led to epoch-making research spanning biochemistry, hematology, and human genetics.
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