Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 Penetrance
Mutations in LRRK2 represent the most common causes of Parkinson's disease (PD) identified to date, but their penetrance is incomplete and probably due to the presence of other genetic or environmental factors required for development of the disease. We analyzed the presence of parkin sequence...
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| Format: | Article |
| Language: | English |
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Wiley
2010-01-01
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| Series: | Parkinson's Disease |
| Online Access: | http://dx.doi.org/10.4061/2010/537698 |
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| author | Paolo Solla Antonino Cannas Gianluca Floris Maria Rita Murru Daniela Corongiu Stefania Tranquilli Stefania Cuccu Marcella Rolesu Francesco Marrosu Maria Giovanna Marrosu |
| author_facet | Paolo Solla Antonino Cannas Gianluca Floris Maria Rita Murru Daniela Corongiu Stefania Tranquilli Stefania Cuccu Marcella Rolesu Francesco Marrosu Maria Giovanna Marrosu |
| author_sort | Paolo Solla |
| collection | DOAJ |
| description | Mutations in LRRK2 represent the most common causes of Parkinson's disease (PD) identified to date, but their penetrance is incomplete and probably due to the presence of other genetic or environmental factors required for development of the disease. We analyzed the presence of parkin sequence variants (mutations or polymorphisms) and exon rearrangements in LRRK2 mutations carriers (both PD patients and unaffected relatives) in order to detect a possible modifier effect on penetrance. Eight families with nine PD patients with heterozygous LRRK2 mutations (identified within 380 Sardinian PD patients screened for the presence of the five most common LRRK2 mutations) and sixteen additional relatives were genetically investigated for the presence of LRRK2 and parkin mutations. No evidence was found for the presence of pathological parkin mutations or exon rearrangements in patients or not affected family members. Three single-nucleotide polymorphisms (SNPs) were identified both in patients and unaffected relatives but did not significantly differ between the two groups. These data provide no support to the hypothesis whereby such parkin gene mutations may be commonly implicated in possible effect on penetrance in LRRK2 mutation carriers. |
| format | Article |
| id | doaj-art-9bf1d437bd324664b4533e95e1d7d3f3 |
| institution | OA Journals |
| issn | 2042-0080 |
| language | English |
| publishDate | 2010-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Parkinson's Disease |
| spelling | doaj-art-9bf1d437bd324664b4533e95e1d7d3f32025-08-20T02:18:28ZengWileyParkinson's Disease2042-00802010-01-01201010.4061/2010/537698537698Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 PenetrancePaolo Solla0Antonino Cannas1Gianluca Floris2Maria Rita Murru3Daniela Corongiu4Stefania Tranquilli5Stefania Cuccu6Marcella Rolesu7Francesco Marrosu8Maria Giovanna Marrosu9Centro per i Disordini del Movimento, Dipartimento di Scienze Cardiovascolari e Neurologiche, Sezione Neurologia, Università degli studi di Cagliari, Via Ospedale 46, 09124 Cagliari, ItalyCentro per i Disordini del Movimento, Dipartimento di Scienze Cardiovascolari e Neurologiche, Sezione Neurologia, Università degli studi di Cagliari, Via Ospedale 46, 09124 Cagliari, ItalyCentro per i Disordini del Movimento, Dipartimento di Scienze Cardiovascolari e Neurologiche, Sezione Neurologia, Università degli studi di Cagliari, Via Ospedale 46, 09124 Cagliari, ItalyLaboratorio Centro Sclerosi Multipla, Ospedale Binaghi, Università degli studi di Cagliari, Via Is Guadazzonis, 09124 Cagliari, ItalyLaboratorio Centro Sclerosi Multipla, Ospedale Binaghi, Università degli studi di Cagliari, Via Is Guadazzonis, 09124 Cagliari, ItalyLaboratorio Centro Sclerosi Multipla, Ospedale Binaghi, Università degli studi di Cagliari, Via Is Guadazzonis, 09124 Cagliari, ItalyLaboratorio Centro Sclerosi Multipla, Ospedale Binaghi, Università degli studi di Cagliari, Via Is Guadazzonis, 09124 Cagliari, ItalyLaboratorio Centro Sclerosi Multipla, Ospedale Binaghi, Università degli studi di Cagliari, Via Is Guadazzonis, 09124 Cagliari, ItalyDipartimento di Scienze Cardiovascolari e Neurologiche, Policlinico Universitario, Università degli studi di Cagliari, Monserrato, 09124 Cagliari, ItalyCentro per i Disordini del Movimento, Dipartimento di Scienze Cardiovascolari e Neurologiche, Sezione Neurologia, Università degli studi di Cagliari, Via Ospedale 46, 09124 Cagliari, ItalyMutations in LRRK2 represent the most common causes of Parkinson's disease (PD) identified to date, but their penetrance is incomplete and probably due to the presence of other genetic or environmental factors required for development of the disease. We analyzed the presence of parkin sequence variants (mutations or polymorphisms) and exon rearrangements in LRRK2 mutations carriers (both PD patients and unaffected relatives) in order to detect a possible modifier effect on penetrance. Eight families with nine PD patients with heterozygous LRRK2 mutations (identified within 380 Sardinian PD patients screened for the presence of the five most common LRRK2 mutations) and sixteen additional relatives were genetically investigated for the presence of LRRK2 and parkin mutations. No evidence was found for the presence of pathological parkin mutations or exon rearrangements in patients or not affected family members. Three single-nucleotide polymorphisms (SNPs) were identified both in patients and unaffected relatives but did not significantly differ between the two groups. These data provide no support to the hypothesis whereby such parkin gene mutations may be commonly implicated in possible effect on penetrance in LRRK2 mutation carriers.http://dx.doi.org/10.4061/2010/537698 |
| spellingShingle | Paolo Solla Antonino Cannas Gianluca Floris Maria Rita Murru Daniela Corongiu Stefania Tranquilli Stefania Cuccu Marcella Rolesu Francesco Marrosu Maria Giovanna Marrosu Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 Penetrance Parkinson's Disease |
| title | Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 Penetrance |
| title_full | Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 Penetrance |
| title_fullStr | Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 Penetrance |
| title_full_unstemmed | Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 Penetrance |
| title_short | Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 Penetrance |
| title_sort | parkin exon rearrangements and sequence variants in lrrk2 mutations carriers analysis on a possible modifier effect on lrrk2 penetrance |
| url | http://dx.doi.org/10.4061/2010/537698 |
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