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Case Report

Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene

by
Ekaterina Y. Ilyechova
1,2,3,
Irina V. Miliukhina
4,
Marina N. Karpenko
5,
Iurii A. Orlov
1,
Ludmila V. Puchkova
1,2,3,* and
Sergey A. Samsonov
1,6
1
International Research Laboratory of Trace Elements Metabolism, ITMO University, Kronverksky av., 49, St. Petersburg 197101, Russia
2
Department of Molecular Genetics, Institute of Experimental Medicine, Pavlov str., 12, St. Petersburg 197376, Russia
3
Biophysics Department, Peter the Great St. Petersburg Polytechnic University, Politehknicheskay str., 29, St. Petersburg 195251, Russia
4
Centre for Neurodegenerative diseases, Institute of Experimental Medicine, Maluy av., Petrogradskiy district, 13, St. Petersburg 197198, Russia
5
Department of Physiology, Institute of Experimental Medicine, Pavlov str., 12, St. Petersburg 197376, Russia
6
Faculty of Chemistry, University of Gdańsk, Wita Stwosza str., 63, 80-308 Gdańsk, Poland
*
Author to whom correspondence should be addressed.
J. Pers. Med. 2019, 9(3), 41; https://doi.org/10.3390/jpm9030041
Submission received: 28 June 2019 / Revised: 10 August 2019 / Accepted: 13 August 2019 / Published: 17 August 2019
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Abstract

In this paper, we report a clinically proven case of Parkinson’s disease (PD) with early onset in a patient who is a heterozygous mutation carrier of ATP7B (the Wilson’s disease gene). The patient was observed from 2011 to 2018 in the Center for Neurodegenerative Diseases, Institute of Experimental Medicine (St. Petersburg, Russia). During this period, the patient displayed aggravation of PD clinical symptoms that were accompanied by a decrease in the ceruloplasmin concentration (from 0.33 to 0.27 g/L) and an increase in serum nonceruloplasmin copper, which are typical of the late stages of Wilson’s disease. It was found that one of the alleles of exon 14 in the ATP7B gene, which partially codes of the nucleotide-binding domain (N-domain), carries a mutation not previously reported corresponding to Cys1079Gly substitution. Alignment of the ATP7B N-domain amino acid sequences of representative vertebrate species has shown that the Cys at 1079 position is conserved throughout the evolution. Molecular dynamic analysis of a polypeptide with Cys1079Gly substitution showed that the mutation causes profound conformational changes in the N-domain, which could potentially lead to impairment of its functions. The role of ATP7B gene mutations in PD development is discussed.
Keywords: Parkinson’s disease; Wilson’s disease; copper-status index; N-domain of ATP7B; molecular modeling Parkinson’s disease; Wilson’s disease; copper-status index; N-domain of ATP7B; molecular modeling

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MDPI and ACS Style

Ilyechova, E.Y.; Miliukhina, I.V.; Karpenko, M.N.; Orlov, I.A.; Puchkova, L.V.; Samsonov, S.A. Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene. J. Pers. Med. 2019, 9, 41. https://doi.org/10.3390/jpm9030041

AMA Style

Ilyechova EY, Miliukhina IV, Karpenko MN, Orlov IA, Puchkova LV, Samsonov SA. Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene. Journal of Personalized Medicine. 2019; 9(3):41. https://doi.org/10.3390/jpm9030041

Chicago/Turabian Style

Ilyechova, Ekaterina Y., Irina V. Miliukhina, Marina N. Karpenko, Iurii A. Orlov, Ludmila V. Puchkova, and Sergey A. Samsonov. 2019. "Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene" Journal of Personalized Medicine 9, no. 3: 41. https://doi.org/10.3390/jpm9030041

APA Style

Ilyechova, E. Y., Miliukhina, I. V., Karpenko, M. N., Orlov, I. A., Puchkova, L. V., & Samsonov, S. A. (2019). Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene. Journal of Personalized Medicine, 9(3), 41. https://doi.org/10.3390/jpm9030041

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