Parkinson's disease: insights from pathways
Identifieur interne : 000B66 ( Main/Corpus ); précédent : 000B65; suivant : 000B67Parkinson's disease: insights from pathways
Auteurs : Mark R. Cookson ; Oliver BandmannSource :
- Human Molecular Genetics [ 0964-6906 ] ; 2010-04-15.
Abstract
Parkinson's disease (PD) typically presents in sporadic fashion, but the identification of disease-causing mutations in monogenically inherited PD genes has provided crucial insight into the pathogenesis of this disorder. Mutations in autosomal recessively inherited genes, namely parkin, PINK1 and DJ-1, typically lead to early onset parkinsonism. At least two of these genes (PINK1 and parkin) appear to work in the same pathway related to maintenance of mitochondrial functional integrity under conditions of oxidative stress. Dominantly inherited mutations in leucine-rich repeat kinase 2 (LRRK2) and -synuclein cause late onset PD, generally with Lewy bodies that are characteristic of sporadic PD and there is evidence that these two genes are also in a common pathway. There is also growing evidence from recently undertaken genome-wide association studies that naturally occurring sequence variants in -synuclein and LRRK2, but also Tau, also confer an increased risk for late onset, sporadic PD. Collectively, these results highlight how understanding pathways for inherited PD are starting to impact ideas about the pathogenesis, some of which may also be relevant to the commoner sporadic disease.
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DOI: 10.1093/hmg/ddq167
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Cookson</name><affiliation><mods:affiliation></mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: cookson@mail.nih.gov</mods:affiliation></affiliation></author><author><name sortKey="Bandmann, Oliver" sort="Bandmann, Oliver" uniqKey="Bandmann O" first="Oliver" last="Bandmann">Oliver Bandmann</name><affiliation><mods:affiliation>RX, UK</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2010-04-15">2010-04-15</date><biblScope unit="volume">19</biblScope><biblScope unit="issue">R1</biblScope><biblScope unit="page" from="R21">R21</biblScope><biblScope unit="page" to="R27">R27</biblScope></imprint><idno type="ISSN">0964-6906</idno></series><idno type="istex">335805F4366667342F7E26C11401F9340C09D5BD</idno><idno type="DOI">10.1093/hmg/ddq167</idno><idno type="ArticleID">ddq167</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Parkinson's disease (PD) typically presents in sporadic fashion, but the identification of disease-causing mutations in monogenically inherited PD genes has provided crucial insight into the pathogenesis of this disorder. Mutations in autosomal recessively inherited genes, namely parkin, PINK1 and DJ-1, typically lead to early onset parkinsonism. At least two of these genes (PINK1 and parkin) appear to work in the same pathway related to maintenance of mitochondrial functional integrity under conditions of oxidative stress. Dominantly inherited mutations in leucine-rich repeat kinase 2 (LRRK2) and -synuclein cause late onset PD, generally with Lewy bodies that are characteristic of sporadic PD and there is evidence that these two genes are also in a common pathway. There is also growing evidence from recently undertaken genome-wide association studies that naturally occurring sequence variants in -synuclein and LRRK2, but also Tau, also confer an increased risk for late onset, sporadic PD. Collectively, these results highlight how understanding pathways for inherited PD are starting to impact ideas about the pathogenesis, some of which may also be relevant to the commoner sporadic disease.</div></front></TEI><istex><corpusName>oup</corpusName><author><json:item><name>Mark R. 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Tel: <phone>+1 3014513870</phone>; Fax: <fax>+1 3014517295</fax>; Email: <email>cookson@mail.nih.gov</email></corresp></author-notes><pub-date pub-type="ppub"><day>15</day><month>4</month><year>2010</year></pub-date><pub-date pub-type="epub"><day>26</day><month>4</month><year>2010</year></pub-date><volume>19</volume><issue>R1</issue><issue-title>Special Review Issue: Molecular Genetic Advances in Neurological Disease</issue-title><fpage>R21</fpage><lpage>R27</lpage><history><date date-type="received"><day>6</day><month>4</month><year>2010</year></date><date date-type="rev-recd"><day>14</day><month>4</month><year>2010</year></date><date date-type="accepted"><day>20</day><month>4</month><year>2010</year></date></history><permissions><copyright-statement>Published by Oxford University Press 2010</copyright-statement><copyright-year>2010</copyright-year></permissions><abstract><p>Parkinson's disease (PD) typically presents in sporadic fashion, but the identification of disease-causing mutations in monogenically inherited PD genes has provided crucial insight into the pathogenesis of this disorder. Mutations in autosomal recessively inherited genes, namely <italic>parkin, PINK1</italic> and <italic>DJ-1</italic>, typically lead to early onset parkinsonism. At least two of these genes (<italic>PINK1</italic> and <italic>parkin</italic>) appear to work in the same pathway related to maintenance of mitochondrial functional integrity under conditions of oxidative stress. Dominantly inherited mutations in leucine-rich repeat kinase 2 (LRRK2) and &agr;-synuclein cause late onset PD, generally with Lewy bodies that are characteristic of sporadic PD and there is evidence that these two genes are also in a common pathway. There is also growing evidence from recently undertaken genome-wide association studies that naturally occurring sequence variants in &agr;-synuclein and LRRK2, but also Tau, also confer an increased risk for late onset, sporadic PD. 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