Genetic analysis of ATP10B for Parkinson's disease in Japan

Mayu Ishiguro; Hiroyo Yoshino; Yuanzhe Li; Aya Ikeda; Manabu Funayama; Kenya Nishioka; Nobutaka Hattori

doi:10.1016/j.parkreldis.2021.05.020

Genetic analysis of ATP10B for Parkinson's disease in Japan

Parkinsonism Relat Disord. 2021 Jul:88:10-12. doi: 10.1016/j.parkreldis.2021.05.020. Epub 2021 May 29.

Authors

Mayu Ishiguro¹, Hiroyo Yoshino², Yuanzhe Li³, Aya Ikeda⁴, Manabu Funayama⁵, Kenya Nishioka⁶, Nobutaka Hattori⁷

Affiliations

¹ Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. Electronic address: [email protected].
² Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. Electronic address: [email protected].
³ Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. Electronic address: [email protected].
⁴ Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. Electronic address: [email protected].
⁵ Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. Electronic address: [email protected].
⁶ Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. Electronic address: [email protected].
⁷ Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. Electronic address: [email protected].

PMID: 34091411
DOI: 10.1016/j.parkreldis.2021.05.020

Abstract

Compound heterozygosity of ATP10B is thought to be a risk factor for young-onset Parkinson's disease (PD). We genetically screened 245 patients with young-onset sporadic PD and 33 patients with autosomal recessive PD for ATP10B. All 13 identified gene variants were heterozygous with little evidence of the pathogenicity.

Keywords: ATP10B; Familial Parkinson's disease; Gene variants.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adenosine Triphosphatases / genetics*
Adult
Age of Onset
Aged
Female
Genetic Predisposition to Disease / epidemiology
Genetic Predisposition to Disease / genetics
Genetic Testing
Humans
Japan / epidemiology
Male
Membrane Transport Proteins / genetics*
Middle Aged
Parkinson Disease / epidemiology
Parkinson Disease / genetics*
Risk Factors

Substances

Membrane Transport Proteins
Adenosine Triphosphatases