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 journalArticle

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

Fingerprint

Essential Tremor
High Pressure Liquid Chromatography
Genes
Point Mutation
Parkinson Disease
Mutation
Movement Disorders

Keywords

  • DHPLC
  • Essential tremor
  • ET
  • Parkin

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Neurology

Cite this

Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor. / Pigullo, Simona; De Luca, Alessandro; Barone, Paolo; Marchese, Roberta; Bellone, Emilia; Colosimo, Alessia; Scaglione, Cesa; Martinelli, Paolo; Di Maria, Emilio; Pizzuti, Antonio; Abbruzzese, Giovanni; Dallapiccola, Bruno; Ajmar, Franco; Mandich, Paola.

In: Parkinsonism and Related Disorders, Vol. 10, No. 6, 08.2004, p. 357-362.

Research output: Contribution to journalArticle

Pigullo, S, De Luca, A, Barone, P, Marchese, R, Bellone, E, Colosimo, A, Scaglione, C, Martinelli, P, Di Maria, E, Pizzuti, A, Abbruzzese, G, Dallapiccola, B, Ajmar, F & Mandich, P 2004, 'Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor', Parkinsonism and Related Disorders, vol. 10, no. 6, pp. 357-362. https://doi.org/10.1016/j.parkreldis.2004.04.012
Pigullo, Simona ; De Luca, Alessandro ; Barone, Paolo ; Marchese, Roberta ; Bellone, Emilia ; Colosimo, Alessia ; Scaglione, Cesa ; Martinelli, Paolo ; Di Maria, Emilio ; Pizzuti, Antonio ; Abbruzzese, Giovanni ; Dallapiccola, Bruno ; Ajmar, Franco ; Mandich, Paola. / Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor. In: Parkinsonism and Related Disorders. 2004 ; Vol. 10, No. 6. pp. 357-362.
@article{e0085decd1ae420d9237125f4fa5f967,
title = "Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor",
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.",
keywords = "DHPLC, Essential tremor, ET, Parkin",
author = "Simona Pigullo and {De Luca}, Alessandro and Paolo Barone and Roberta Marchese and Emilia Bellone and Alessia Colosimo and Cesa Scaglione and Paolo Martinelli and {Di Maria}, Emilio and Antonio Pizzuti and Giovanni Abbruzzese and Bruno Dallapiccola and Franco Ajmar and Paola Mandich",
year = "2004",
month = "8",
doi = "10.1016/j.parkreldis.2004.04.012",
language = "English",
volume = "10",
pages = "357--362",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",
number = "6",

}

TY - JOUR

T1 - Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor

AU - Pigullo, Simona

AU - De Luca, Alessandro

AU - Barone, Paolo

AU - Marchese, Roberta

AU - Bellone, Emilia

AU - Colosimo, Alessia

AU - Scaglione, Cesa

AU - Martinelli, Paolo

AU - Di Maria, Emilio

AU - Pizzuti, Antonio

AU - Abbruzzese, Giovanni

AU - Dallapiccola, Bruno

AU - Ajmar, Franco

AU - Mandich, Paola

PY - 2004/8

Y1 - 2004/8

N2 - 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.

AB - 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.

KW - DHPLC

KW - Essential tremor

KW - ET

KW - Parkin

UR - http://www.scopus.com/inward/record.url?scp=3242703258&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=3242703258&partnerID=8YFLogxK

U2 - 10.1016/j.parkreldis.2004.04.012

DO - 10.1016/j.parkreldis.2004.04.012

M3 - Article

C2 - 15261877

AN - SCOPUS:3242703258

VL - 10

SP - 357

EP - 362

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

SN - 1353-8020

IS - 6

ER -