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Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson’s disease

Parkinson’s disease (PD) is a heterogenous neurodegenerative disorder. Genetic factors play a significant role, especially in early onset and familial cases. Mutations are usually found in the LRRK2 gene, but their importance varies. Some mutations, such as p.Arg1441Cys or other alterations in the 1...

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Autores principales: Turski, Paweł, Chaberska, Iwona, Szukało, Piotr, Pyska, Paulina, Milanowski, Łukasz, Szlufik, Stanisław, Figura, Monika, Hoffman-Zacharska, Dorota, Siuda, Joanna, Koziorowski, Dariusz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9530194/
https://www.ncbi.nlm.nih.gov/pubmed/36203807
http://dx.doi.org/10.3389/fnins.2022.971270
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author Turski, Paweł
Chaberska, Iwona
Szukało, Piotr
Pyska, Paulina
Milanowski, Łukasz
Szlufik, Stanisław
Figura, Monika
Hoffman-Zacharska, Dorota
Siuda, Joanna
Koziorowski, Dariusz
author_facet Turski, Paweł
Chaberska, Iwona
Szukało, Piotr
Pyska, Paulina
Milanowski, Łukasz
Szlufik, Stanisław
Figura, Monika
Hoffman-Zacharska, Dorota
Siuda, Joanna
Koziorowski, Dariusz
author_sort Turski, Paweł
collection PubMed
description Parkinson’s disease (PD) is a heterogenous neurodegenerative disorder. Genetic factors play a significant role, especially in early onset and familial cases. Mutations are usually found in the LRRK2 gene, but their importance varies. Some mutations, such as p.Arg1441Cys or other alterations in the 1441 codon, show clear correlation with PD, whereas others are risk factors found also in healthy populations or have neglectable consequences. They also exhibit various prevalence among different populations. The aim of this paper is to sum up the current knowledge regarding the epidemiology and pathogenicity of LRRK2 mutations, other than the well-established p.Gly2019Ser. We performed a review of the literature using PubMed database. 103 publications met our inclusion criteria. p.Arg1441Cys, p.Arg1441Gly, p.Arg1441His, p.Arg1441Ser are the most common pathogenic mutations in European populations, especially Hispanic. p.Asn1437His is pathogenic and occurs mostly in the Scandinavians. p.Asn1437Ser and p.Asn1437Asp have been reported in German and Chinese cohorts respectively. p.Ile2020Thr is a rare pathogenic mutation described only in a Japanese cohort. p.Met1869Thr has only been reported in Caucasians. p.Tyr1699Cys, p.Ile1122Val have only been found in one family each. p.Glu1874Ter has been described in just one patient. We found no references concerning mutation p.Gln416Ter. We also report the first case of a Polish PD family whose members carried p.Asn1437His.
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spelling pubmed-95301942022-10-05 Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson’s disease Turski, Paweł Chaberska, Iwona Szukało, Piotr Pyska, Paulina Milanowski, Łukasz Szlufik, Stanisław Figura, Monika Hoffman-Zacharska, Dorota Siuda, Joanna Koziorowski, Dariusz Front Neurosci Neuroscience Parkinson’s disease (PD) is a heterogenous neurodegenerative disorder. Genetic factors play a significant role, especially in early onset and familial cases. Mutations are usually found in the LRRK2 gene, but their importance varies. Some mutations, such as p.Arg1441Cys or other alterations in the 1441 codon, show clear correlation with PD, whereas others are risk factors found also in healthy populations or have neglectable consequences. They also exhibit various prevalence among different populations. The aim of this paper is to sum up the current knowledge regarding the epidemiology and pathogenicity of LRRK2 mutations, other than the well-established p.Gly2019Ser. We performed a review of the literature using PubMed database. 103 publications met our inclusion criteria. p.Arg1441Cys, p.Arg1441Gly, p.Arg1441His, p.Arg1441Ser are the most common pathogenic mutations in European populations, especially Hispanic. p.Asn1437His is pathogenic and occurs mostly in the Scandinavians. p.Asn1437Ser and p.Asn1437Asp have been reported in German and Chinese cohorts respectively. p.Ile2020Thr is a rare pathogenic mutation described only in a Japanese cohort. p.Met1869Thr has only been reported in Caucasians. p.Tyr1699Cys, p.Ile1122Val have only been found in one family each. p.Glu1874Ter has been described in just one patient. We found no references concerning mutation p.Gln416Ter. We also report the first case of a Polish PD family whose members carried p.Asn1437His. Frontiers Media S.A. 2022-09-20 /pmc/articles/PMC9530194/ /pubmed/36203807 http://dx.doi.org/10.3389/fnins.2022.971270 Text en Copyright © 2022 Turski, Chaberska, Szukało, Pyska, Milanowski, Szlufik, Figura, Hoffman-Zacharska, Siuda and Koziorowski. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Turski, Paweł
Chaberska, Iwona
Szukało, Piotr
Pyska, Paulina
Milanowski, Łukasz
Szlufik, Stanisław
Figura, Monika
Hoffman-Zacharska, Dorota
Siuda, Joanna
Koziorowski, Dariusz
Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson’s disease
title Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson’s disease
title_full Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson’s disease
title_fullStr Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson’s disease
title_full_unstemmed Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson’s disease
title_short Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson’s disease
title_sort review of the epidemiology and variability of lrrk2 non-p.gly2019ser pathogenic mutations in parkinson’s disease
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9530194/
https://www.ncbi.nlm.nih.gov/pubmed/36203807
http://dx.doi.org/10.3389/fnins.2022.971270
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