Postep w badaniach genetycznych w chorobie Parkinsona.

Translated title of the contribution: Advances in the genetic studies in Parkinson's disease

Anna Krygowska-Wajs, Zbigniew K Wszolek

Research output: Contribution to journalArticle

Abstract

Genetic contribution to the etiology of Parkinson's disease (PD) is generally accepted based on the studies of the familial form of the disease and progress in molecular genetic techniques. To date, specific mutations have been identified in five separate genes and several chromosomal loci have been linked for different forms of familial parkinsonism. The discovery of alpha-synuclein, ubiquitin C-terminal hydrolase, parkin, tau and DJ-1 mutations and analysis of the biochemical and molecular properties of these gene products point to the critical role of protein aggregation in dopaminergic neurons of the substantia nigra as the basic mechanism leading to neurodegeneration also in sporadic form of the disease. Lewy bodies, even in sporadic PD, contain some of these gene products, particularly abundant fibrillar alpha-synuclein. Studies of familial parkinsonism provide evidence that PD is genetically heterogeneous. Evidence elucidated from genetic studies in PD suggests that parkinsonism is a complex disorder in which multiple gene-gene and gene-environment interactions play a critical role in the development of the disease and phenotypic variability. Further genetic studies in familial parkinsonism will enhance our knowledge of pathogenesis of PD and allow the development of neuroprotective treatments of PD and perhaps other forms of parkinsonism as well.

Original languageUndefined
Pages (from-to)127-136
Number of pages10
JournalNeurologia i Neurochirurgia Polska
Volume38
Issue number2
StatePublished - Mar 2004
Externally publishedYes

Fingerprint

Parkinsonian Disorders
Parkinson Disease
alpha-Synuclein
Genes
Ubiquitin Thiolesterase
Lewy Bodies
Genetic Techniques
Gene-Environment Interaction
Mutation
Dopaminergic Neurons
Substantia Nigra
Molecular Biology
Proteins

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Postep w badaniach genetycznych w chorobie Parkinsona. / Krygowska-Wajs, Anna; Wszolek, Zbigniew K.

In: Neurologia i Neurochirurgia Polska, Vol. 38, No. 2, 03.2004, p. 127-136.

Research output: Contribution to journalArticle

@article{e4492d8371c741269af11bc2dc374770,
title = "Postep w badaniach genetycznych w chorobie Parkinsona.",
abstract = "Genetic contribution to the etiology of Parkinson's disease (PD) is generally accepted based on the studies of the familial form of the disease and progress in molecular genetic techniques. To date, specific mutations have been identified in five separate genes and several chromosomal loci have been linked for different forms of familial parkinsonism. The discovery of alpha-synuclein, ubiquitin C-terminal hydrolase, parkin, tau and DJ-1 mutations and analysis of the biochemical and molecular properties of these gene products point to the critical role of protein aggregation in dopaminergic neurons of the substantia nigra as the basic mechanism leading to neurodegeneration also in sporadic form of the disease. Lewy bodies, even in sporadic PD, contain some of these gene products, particularly abundant fibrillar alpha-synuclein. Studies of familial parkinsonism provide evidence that PD is genetically heterogeneous. Evidence elucidated from genetic studies in PD suggests that parkinsonism is a complex disorder in which multiple gene-gene and gene-environment interactions play a critical role in the development of the disease and phenotypic variability. Further genetic studies in familial parkinsonism will enhance our knowledge of pathogenesis of PD and allow the development of neuroprotective treatments of PD and perhaps other forms of parkinsonism as well.",
author = "Anna Krygowska-Wajs and Wszolek, {Zbigniew K}",
year = "2004",
month = "3",
language = "Undefined",
volume = "38",
pages = "127--136",
journal = "Neurologia i Neurochirurgia Polska",
issn = "0028-3843",
publisher = "Termedia Publishing House Ltd.",
number = "2",

}

TY - JOUR

T1 - Postep w badaniach genetycznych w chorobie Parkinsona.

AU - Krygowska-Wajs, Anna

AU - Wszolek, Zbigniew K

PY - 2004/3

Y1 - 2004/3

N2 - Genetic contribution to the etiology of Parkinson's disease (PD) is generally accepted based on the studies of the familial form of the disease and progress in molecular genetic techniques. To date, specific mutations have been identified in five separate genes and several chromosomal loci have been linked for different forms of familial parkinsonism. The discovery of alpha-synuclein, ubiquitin C-terminal hydrolase, parkin, tau and DJ-1 mutations and analysis of the biochemical and molecular properties of these gene products point to the critical role of protein aggregation in dopaminergic neurons of the substantia nigra as the basic mechanism leading to neurodegeneration also in sporadic form of the disease. Lewy bodies, even in sporadic PD, contain some of these gene products, particularly abundant fibrillar alpha-synuclein. Studies of familial parkinsonism provide evidence that PD is genetically heterogeneous. Evidence elucidated from genetic studies in PD suggests that parkinsonism is a complex disorder in which multiple gene-gene and gene-environment interactions play a critical role in the development of the disease and phenotypic variability. Further genetic studies in familial parkinsonism will enhance our knowledge of pathogenesis of PD and allow the development of neuroprotective treatments of PD and perhaps other forms of parkinsonism as well.

AB - Genetic contribution to the etiology of Parkinson's disease (PD) is generally accepted based on the studies of the familial form of the disease and progress in molecular genetic techniques. To date, specific mutations have been identified in five separate genes and several chromosomal loci have been linked for different forms of familial parkinsonism. The discovery of alpha-synuclein, ubiquitin C-terminal hydrolase, parkin, tau and DJ-1 mutations and analysis of the biochemical and molecular properties of these gene products point to the critical role of protein aggregation in dopaminergic neurons of the substantia nigra as the basic mechanism leading to neurodegeneration also in sporadic form of the disease. Lewy bodies, even in sporadic PD, contain some of these gene products, particularly abundant fibrillar alpha-synuclein. Studies of familial parkinsonism provide evidence that PD is genetically heterogeneous. Evidence elucidated from genetic studies in PD suggests that parkinsonism is a complex disorder in which multiple gene-gene and gene-environment interactions play a critical role in the development of the disease and phenotypic variability. Further genetic studies in familial parkinsonism will enhance our knowledge of pathogenesis of PD and allow the development of neuroprotective treatments of PD and perhaps other forms of parkinsonism as well.

UR - http://www.scopus.com/inward/record.url?scp=5144225615&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=5144225615&partnerID=8YFLogxK

M3 - Article

C2 - 15307606

AN - SCOPUS:5144225615

VL - 38

SP - 127

EP - 136

JO - Neurologia i Neurochirurgia Polska

JF - Neurologia i Neurochirurgia Polska

SN - 0028-3843

IS - 2

ER -