Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor

Simona Pigullo, Alessandro De Luca, Paolo Barone, Roberta Marchese, Emilia Bellone, Alessia Colosimo, Cesa Scaglione, Paolo Martinelli, Emilio Di Maria, Antonio Pizzuti, Giovanni Abbruzzese, Bruno Dallapiccola, Franco Ajmar, Paola Mandich

Research output: Contribution to journalArticlepeer-review

Abstract

Objectives. To evaluate the relationship between point mutations within the parkin gene and essential tremor (ET). Background. Essential tremor, the most common movement disorder, has long been recognised as an autosomal dominant disease. To date the genes involved in ET pathogenesis are still unknown. Several authors reported the association of ET with Parkinson's disease (PD). Patients and methods. One hundred and ten unrelated ET patients were analysed for point mutations within the parkin gene. Experimental conditions for DHPLC mutational analysis of the coding region of the parkin gene were set up. Results. Neither obvious disruptive mutations, nor mutations previously described in patients with Parkinson's disease were identified in the cohort of patients analysed. DHPLC analysis detected two already reported polymorphisms [c.1138G>C (V380L) and c.1180G>A (D394N)], and four novel rare variants (frequency A (H215Q); c.847C>T (H279H); c.1393G>A (V465M) and c.2695A>G] located within exonic regions. Four new polymorphisms [c.413-20T>C; c.872-35G>A; c.872-68C>G; c.1286-117A>G], and one rare variant (c.934-3C>T) were also found within intronic regions. Conclusion. Causative sequence variants in the parkin gene have not been identified in this cohort of Italian ET patients.

Original languageEnglish
Pages (from-to)357-362
Number of pages6
JournalParkinsonism and Related Disorders
Volume10
Issue number6
DOIs
Publication statusPublished - Aug 2004

Keywords

  • DHPLC
  • Essential tremor
  • ET
  • Parkin

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Neurology

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