Mutations in VPS26A are not a frequent cause of Parkinson's disease

Eva Koschmidder; Brit Mollenhauer; Meike Kasten; Christine Klein; Katja Lohmann

doi:10.1016/j.neurobiolaging.2013.12.016

Mutations in VPS26A are not a frequent cause of Parkinson's disease

Eva Koschmidder, Brit Mollenhauer, Meike Kasten, Christine Klein, Katja Lohmann^*

^*Corresponding author for this work

9 Citations (Scopus)

Abstract

VPS35 mutations have been identified as a cause of autosomal dominantly inherited Parkinson's disease (PD). VPS35 interacts with VPS26A in the retromer complex that links mitochondrial and lysosomal pathways, which have both been shown to be dysfunctional in PD. Thus, mutations in VPS26A may be associated with PD. To test this hypothesis, we screened 245 idiopathic PD patients and 185 control subjects for mutations in the retromer subunit VPS26A. We found 2 novel missense variants in patients and 2 known missense variants in control subjects. The missense variants were unlikely to be disease causing, suggesting that VPS26A mutations are not a frequent cause of PD.

Original language	English
Journal	Neurobiology of Aging
Volume	35
Issue number	6
ISSN	0197-4580
DOIs	https://doi.org/10.1016/j.neurobiolaging.2013.12.016
Publication status	Published - 01.06.2014

Funding

This study was supported by the Herrmann and Lilly Schilling Foundation (to Christine Klein), the Federal Ministry of Education and Research , and the European Project on Mendelian Forms of Parkinson's Disease . Appendix A

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 10 Reduced Inequalities

Access to Document

10.1016/j.neurobiolaging.2013.12.016

Cite this

@article{c13e905c07b247bbbf12a9f17d18eb45,

title = "Mutations in VPS26A are not a frequent cause of Parkinson's disease",

abstract = "VPS35 mutations have been identified as a cause of autosomal dominantly inherited Parkinson's disease (PD). VPS35 interacts with VPS26A in the retromer complex that links mitochondrial and lysosomal pathways, which have both been shown to be dysfunctional in PD. Thus, mutations in VPS26A may be associated with PD. To test this hypothesis, we screened 245 idiopathic PD patients and 185 control subjects for mutations in the retromer subunit VPS26A. We found 2 novel missense variants in patients and 2 known missense variants in control subjects. The missense variants were unlikely to be disease causing, suggesting that VPS26A mutations are not a frequent cause of PD.",

author = "Eva Koschmidder and Brit Mollenhauer and Meike Kasten and Christine Klein and Katja Lohmann",

year = "2014",

month = jun,

day = "1",

doi = "10.1016/j.neurobiolaging.2013.12.016",

language = "English",

volume = "35",

journal = "Neurobiology of Aging",

issn = "0197-4580",

publisher = "Elsevier Inc.",

number = "6",

}

TY - JOUR

T1 - Mutations in VPS26A are not a frequent cause of Parkinson's disease

AU - Koschmidder, Eva

AU - Mollenhauer, Brit

AU - Kasten, Meike

AU - Klein, Christine

AU - Lohmann, Katja

PY - 2014/6/1

Y1 - 2014/6/1

N2 - VPS35 mutations have been identified as a cause of autosomal dominantly inherited Parkinson's disease (PD). VPS35 interacts with VPS26A in the retromer complex that links mitochondrial and lysosomal pathways, which have both been shown to be dysfunctional in PD. Thus, mutations in VPS26A may be associated with PD. To test this hypothesis, we screened 245 idiopathic PD patients and 185 control subjects for mutations in the retromer subunit VPS26A. We found 2 novel missense variants in patients and 2 known missense variants in control subjects. The missense variants were unlikely to be disease causing, suggesting that VPS26A mutations are not a frequent cause of PD.

AB - VPS35 mutations have been identified as a cause of autosomal dominantly inherited Parkinson's disease (PD). VPS35 interacts with VPS26A in the retromer complex that links mitochondrial and lysosomal pathways, which have both been shown to be dysfunctional in PD. Thus, mutations in VPS26A may be associated with PD. To test this hypothesis, we screened 245 idiopathic PD patients and 185 control subjects for mutations in the retromer subunit VPS26A. We found 2 novel missense variants in patients and 2 known missense variants in control subjects. The missense variants were unlikely to be disease causing, suggesting that VPS26A mutations are not a frequent cause of PD.

UR - https://www.scopus.com/pages/publications/84903362808

U2 - 10.1016/j.neurobiolaging.2013.12.016

DO - 10.1016/j.neurobiolaging.2013.12.016

M3 - Journal articles

C2 - 24417787

AN - SCOPUS:84903362808

SN - 0197-4580

VL - 35

JO - Neurobiology of Aging

JF - Neurobiology of Aging

IS - 6

ER -

Mutations in VPS26A are not a frequent cause of Parkinson's disease

Abstract

Funding

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this