Details

Autor(en) / Beteiligte

• Tarantino, Patrizia
• Civitelli, Donatella
• Annesi, Ferdinanda
• De Marco, Elvira V
• Rocca, Francesca E
• Pugliese, Pierfrancesco
• Nicoletti, Giuseppe
• Carrideo, Sara
• Provenzano, Giovanni
• Annesi, Grazia
• Quattrone, Aldo

Titel

Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism

Ist Teil von

• Parkinsonism & related disorders, 2009-05, Vol.15 (4), p.324-326

Ort / Verlag

England: Elsevier Ltd

Erscheinungsjahr

2009

Quelle

MEDLINE

Beschreibungen/Notizen

• Abstract In this study we analysed the DJ-1 gene in 40 sporadic patients with early onset Parkinson's disease and 100 appropriate controls, originated from southern Italy. We identified a single patient with age at onset of 38 years carrying two previously undescribed heterozygous mutations, both located in non-coding regions. The first mutation was a nucleotide change in the promoter region of the gene (g.159 C>G) and the second one was an insertion in the intron 4 splice site (IVS4+3insA). In the same patient, genomic rearrangements were excluded. No DJ-1 mutations were found in the remaining parkinsonian patients. Our results support the growing importance of mutations in non-coding portion of human genome, and confirm that alterations in DJ-1 are a cause, even if rare, of early-onset Parkinson's disease.