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Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy.
Matsumoto, Hideki; Sasai, Hideo; Kawamoto, Norio; Katsuyama, Masato; Minamiyama, Makoto; Kuru, Satoshi; Fukao, Toshiyuki; Ohnishi, Hidenori.
Afiliación
  • Matsumoto H; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Sasai H; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Kawamoto N; Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.
  • Katsuyama M; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Minamiyama M; Radioisotope Center, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Kuru S; Department of Neurology, NHO Suzuka National Hospital, Suzuka, Japan.
  • Fukao T; Department of Neurology, NHO Suzuka National Hospital, Suzuka, Japan.
  • Ohnishi H; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu University, Gifu, Japan.
Mol Genet Genomic Med ; 12(6): e2470, 2024 Jun.
Article en En | MEDLINE | ID: mdl-38860482
ABSTRACT

BACKGROUND:

Subacute myelo-optico-neuropathy (SMON) is a neurological disorder associated with the administration of clioquinol, particularly at very high doses. Although clioquinol has been used worldwide, there was an outbreak of SMON in the 1950s-1970s in which the majority of cases were in Japan, prompting speculation that the unique genetic background of the Japanese population may have contributed to the development of SMON. Recently, a possible association between loss-of-function polymorphisms in NQO1 and the development of SMON has been reported. In this study, we analyzed the relationship between NQO1 polymorphisms and SMON in Japan.

METHODS:

We analyzed 125 Japanese patients with SMON. NQO1 loss-of-function polymorphisms (rs1800566, rs10517, rs689452, and rs689456) were evaluated. The allele frequency distribution of each polymorphism was compared between the patients and the healthy Japanese individuals (Human Genomic Variation Database and Integrative Japanese Genome Variation Database), as well as our in-house healthy controls.

RESULTS:

The frequencies of the loss-of-function NQO1 alleles in patients with SMON and the normal control group did not differ significantly.

CONCLUSION:

We conclude that known NQO1 polymorphisms are not associated with the development of SMON.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: NAD(P)H Deshidrogenasa (Quinona) / Polimorfismo de Nucleótido Simple Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Mol Genet Genomic Med Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: NAD(P)H Deshidrogenasa (Quinona) / Polimorfismo de Nucleótido Simple Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Mol Genet Genomic Med Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos