関: acatalasemic、acatalasia

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/11/25 17:47:42」(JST)

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Acatalasia (also called acatalasemia, or Takahara's disease^[1]^:809) is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase.

Presentation[edit]

The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene.^[2]

History[edit]

In 1948, Dr. Shigeo Takahara (1908–1994), a Japanese otolaryngologist first reported this new disease.^[3] He had examined a patient with an oral ulcer. He had spread hydrogen peroxide on the diseased part, but oxygen was not generated due to the lack of catalase.

References[edit]

^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
^ Takahara, Shigeo; Hamilton, H. B., Neel, J. V., Kobara, T. Y., Ogura, Y., Nishimura, E. T. (1960). "Hypocatalasemia: a new genetic carrier state". Journal of Clinical Investigation 39 (4). doi:10.1172/JCI104075.
^ Takahara, S.; Miyamoto, H. Three cases of progressive oral gangrene due to lack of catalase in the blood. Nippon Jibi-Inkoka Gakkai Kaiho 51: 163 only, 1948.

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1. ペルオキシソーム病 peroxisomal disorders

English Journal

Altered methanol embryopathies in embryo culture with mutant catalase-deficient mice and transgenic mice expressing human catalase.

Miller L, Wells PG.SourceDepartment of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada.
Toxicology and applied pharmacology.Toxicol Appl Pharmacol.2011 Apr 1;252(1):55-61. Epub 2011 Feb 3.
The mechanisms underlying the teratogenicity of methanol (MeOH) in rodents, unlike its acute toxicity in humans, are unclear, but may involve reactive oxygen species (ROS). Embryonic catalase, although expressed at about 5% of maternal activity, may protect the embryo by detoxifying ROS. This hypoth
PMID 21295602

Exposure to hydrogen peroxide induces oxidation and activation of AMP-activated protein kinase.

Zmijewski JW, Banerjee S, Bae H, Friggeri A, Lazarowski ER, Abraham E.SourceDepartment of Medicine, University of Alabama at Birmingham, Birmingham, Alabama 35294-0012, USA. zmijewsk@uab.edu
The Journal of biological chemistry.J Biol Chem.2010 Oct 22;285(43):33154-64. Epub 2010 Aug 20.
Although metabolic conditions associated with an increased AMP/ATP ratio are primary factors in the activation of 5'-adenosine monophosphate-activated protein kinase (AMPK), a number of recent studies have shown that increased intracellular levels of reactive oxygen species can stimulate AMPK activi
PMID 20729205

Japanese Journal

アカタラセミア(acatalasemia)--研究経過と分類

緒方正名,荻野景規
日本予防医学会雑誌 4(3), 3-13, 2009-10
NAID 40016901744

Mammalian Acatalasemia: The Perspectives of Bioinformatics and Genetic Toxicology

Ogata Masana,Wang Da-Hong,Ogino Keiki
Acta Medica Okayama 62(6), 345-361, 2008-12
… <p>The molecular defects in the catalase gene, levels of m-RNA and properties of the residual catalase studied by scientists are reviewed in human (Japanese, Swiss and Hungarian) and non-human (mouse and beagle dog) acatalasemia with reference to the bioinformatics. … Japanese acatalasemia-I, the G to A transition at the fifth position of intron 4 of the catalase gene, limited the correct splicing of the mRNA and synthesized trace catalase with normal properties. …
NAID 120002305472