Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders
PBN-AR
Instytucja
Instytut Medycyny Doświadczalnej i Klinicznej im. Mirosława Mossakowskiego Polskiej Akademii Nauk
Źródłowe zdarzenia ewaluacyjne
Informacje podstawowe
Główny język publikacji
en
Czasopismo
Neurology
ISSN
0028-3878
EISSN
Wydawca
LIPPINCOTT WILLIAMS & WILKINS
DOI
URL
Rok publikacji
2015
Numer zeszytu
23
Strony od-do
2016-2025
Numer tomu
85
Identyfikator DOI
Liczba arkuszy
1,20
Słowa kluczowe
angielski
CHCHD2 gene
Lewy body disorders
Streszczenia
Język
en
Treść
Objective: To assess the role of CHCHD2 variants in patients with Parkinson disease (PD) and Lewy body disease (LBD) in Caucasian populations.Methods: All exons of the CHCHD2 gene were sequenced in a US Caucasian patient-control series (878 PD, 610 LBD, and 717 controls). Subsequently, exons 1 and 2 were sequenced in an Irish series (355 PD and 365 controls) and a Polish series (394 PD and 350 controls). Immunohistochemistry and immunofluorescence studies were performed on pathologic LBD cases with rare CHCHD2 variants.Results: We identified 9 rare exonic variants of unknown significance. These variants were more frequent in the combined group of PD and LBD patients compared to controls (0.6% vs 0.1%, p = 0.013). In addition, the presence of any rare variant was more common in patients with LBD (2.5% vs 1.0%, p = 0.050) compared to controls. Eight of these 9 variants were located within the gene's mitochondrial targeting sequence.Conclusions: Although the role of variants of the CHCHD2 gene in PD and LBD remains to be further elucidated, the rare variants in the mitochondrial targeting sequence may be a risk factor for Lewy body disorders, which may link CHCHD2 to other genetic forms of parkinsonism with mitochondrial dysfunction.
Cechy publikacji
ORIGINAL_ARTICLE
Inne
System-identifier
691999
CrossrefMetadata from Crossref logo
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