Analysis of ferritin genes in Parkinson disease

Barbara Foglieni, Francesca Ferrari, Stefano Goldwurm, Paolo Santambrogio, Emanuela Castiglioni, Maria Sessa, Maria Antonietta Volontè, Stefania Lalli, Carlo Galli, Xin Sheng Wang, James Connor, Francesca Sironi, Margherita Canesi, Giorgio Biasiotto, Gianni Pezzoli, Sonia Levi, Maurizio Ferrari, Paolo Arosio, Laura Cremonesi

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Background: Genes that regulate iron metabolism may be involved in increasing brain iron content in Parkinson disease (PD). The ferritin L-chain is one of these genes, but the rare insertional mutations that cause neuroferritinopathy with basal ganglia degeneration have not yet been identified in PD. Methods: We used denaturing HPLC (DHPLC) to investigate 124 PD patients and 180 controls for variations in the coding and in the 5′ untranslated regions of the H- and L-ferritin genes. Results: In the H-ferritin gene, we found one new and rather common intronic polymorphism and the K54R substitution in two controls. The L-ferritin gene showed a very common L55L polymorphism and four other types of DNA variations, three of which were in the patient cohort. A mutation of the conserved His133 to Pro was found in a PD patient and in his daughter. The patient did not show signs of neuroferritinopathy, but the mutation was associated with low L-ferritin levels and with mild chronic anemia. Conclusions: The results support the hypothesis that DNA variations in the ferritin genes are not a common cause for PD.

Original languageEnglish (US)
Pages (from-to)1450-1456
Number of pages7
JournalClinical Chemistry and Laboratory Medicine
Volume45
Issue number11
DOIs
StatePublished - Nov 11 2007

Fingerprint

Apoferritins
Ferritins
Parkinson Disease
Genes
Polymorphism
Mutation
Iron
5' Untranslated Regions
DNA
Basal Ganglia
Nuclear Family
Metabolism
Anemia
Brain
Substitution reactions
High Pressure Liquid Chromatography

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Foglieni, B., Ferrari, F., Goldwurm, S., Santambrogio, P., Castiglioni, E., Sessa, M., ... Cremonesi, L. (2007). Analysis of ferritin genes in Parkinson disease. Clinical Chemistry and Laboratory Medicine, 45(11), 1450-1456. https://doi.org/10.1515/CCLM.2007.307
Foglieni, Barbara ; Ferrari, Francesca ; Goldwurm, Stefano ; Santambrogio, Paolo ; Castiglioni, Emanuela ; Sessa, Maria ; Antonietta Volontè, Maria ; Lalli, Stefania ; Galli, Carlo ; Wang, Xin Sheng ; Connor, James ; Sironi, Francesca ; Canesi, Margherita ; Biasiotto, Giorgio ; Pezzoli, Gianni ; Levi, Sonia ; Ferrari, Maurizio ; Arosio, Paolo ; Cremonesi, Laura. / Analysis of ferritin genes in Parkinson disease. In: Clinical Chemistry and Laboratory Medicine. 2007 ; Vol. 45, No. 11. pp. 1450-1456.
@article{a3333c49f551496c9d7e98dc558021f8,
title = "Analysis of ferritin genes in Parkinson disease",
abstract = "Background: Genes that regulate iron metabolism may be involved in increasing brain iron content in Parkinson disease (PD). The ferritin L-chain is one of these genes, but the rare insertional mutations that cause neuroferritinopathy with basal ganglia degeneration have not yet been identified in PD. Methods: We used denaturing HPLC (DHPLC) to investigate 124 PD patients and 180 controls for variations in the coding and in the 5′ untranslated regions of the H- and L-ferritin genes. Results: In the H-ferritin gene, we found one new and rather common intronic polymorphism and the K54R substitution in two controls. The L-ferritin gene showed a very common L55L polymorphism and four other types of DNA variations, three of which were in the patient cohort. A mutation of the conserved His133 to Pro was found in a PD patient and in his daughter. The patient did not show signs of neuroferritinopathy, but the mutation was associated with low L-ferritin levels and with mild chronic anemia. Conclusions: The results support the hypothesis that DNA variations in the ferritin genes are not a common cause for PD.",
author = "Barbara Foglieni and Francesca Ferrari and Stefano Goldwurm and Paolo Santambrogio and Emanuela Castiglioni and Maria Sessa and {Antonietta Volont{\`e}}, Maria and Stefania Lalli and Carlo Galli and Wang, {Xin Sheng} and James Connor and Francesca Sironi and Margherita Canesi and Giorgio Biasiotto and Gianni Pezzoli and Sonia Levi and Maurizio Ferrari and Paolo Arosio and Laura Cremonesi",
year = "2007",
month = "11",
day = "11",
doi = "10.1515/CCLM.2007.307",
language = "English (US)",
volume = "45",
pages = "1450--1456",
journal = "Clinical Chemistry and Laboratory Medicine",
issn = "1434-6621",
publisher = "Walter de Gruyter GmbH & Co. KG",
number = "11",

}

Foglieni, B, Ferrari, F, Goldwurm, S, Santambrogio, P, Castiglioni, E, Sessa, M, Antonietta Volontè, M, Lalli, S, Galli, C, Wang, XS, Connor, J, Sironi, F, Canesi, M, Biasiotto, G, Pezzoli, G, Levi, S, Ferrari, M, Arosio, P & Cremonesi, L 2007, 'Analysis of ferritin genes in Parkinson disease', Clinical Chemistry and Laboratory Medicine, vol. 45, no. 11, pp. 1450-1456. https://doi.org/10.1515/CCLM.2007.307

Analysis of ferritin genes in Parkinson disease. / Foglieni, Barbara; Ferrari, Francesca; Goldwurm, Stefano; Santambrogio, Paolo; Castiglioni, Emanuela; Sessa, Maria; Antonietta Volontè, Maria; Lalli, Stefania; Galli, Carlo; Wang, Xin Sheng; Connor, James; Sironi, Francesca; Canesi, Margherita; Biasiotto, Giorgio; Pezzoli, Gianni; Levi, Sonia; Ferrari, Maurizio; Arosio, Paolo; Cremonesi, Laura.

In: Clinical Chemistry and Laboratory Medicine, Vol. 45, No. 11, 11.11.2007, p. 1450-1456.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Analysis of ferritin genes in Parkinson disease

AU - Foglieni, Barbara

AU - Ferrari, Francesca

AU - Goldwurm, Stefano

AU - Santambrogio, Paolo

AU - Castiglioni, Emanuela

AU - Sessa, Maria

AU - Antonietta Volontè, Maria

AU - Lalli, Stefania

AU - Galli, Carlo

AU - Wang, Xin Sheng

AU - Connor, James

AU - Sironi, Francesca

AU - Canesi, Margherita

AU - Biasiotto, Giorgio

AU - Pezzoli, Gianni

AU - Levi, Sonia

AU - Ferrari, Maurizio

AU - Arosio, Paolo

AU - Cremonesi, Laura

PY - 2007/11/11

Y1 - 2007/11/11

N2 - Background: Genes that regulate iron metabolism may be involved in increasing brain iron content in Parkinson disease (PD). The ferritin L-chain is one of these genes, but the rare insertional mutations that cause neuroferritinopathy with basal ganglia degeneration have not yet been identified in PD. Methods: We used denaturing HPLC (DHPLC) to investigate 124 PD patients and 180 controls for variations in the coding and in the 5′ untranslated regions of the H- and L-ferritin genes. Results: In the H-ferritin gene, we found one new and rather common intronic polymorphism and the K54R substitution in two controls. The L-ferritin gene showed a very common L55L polymorphism and four other types of DNA variations, three of which were in the patient cohort. A mutation of the conserved His133 to Pro was found in a PD patient and in his daughter. The patient did not show signs of neuroferritinopathy, but the mutation was associated with low L-ferritin levels and with mild chronic anemia. Conclusions: The results support the hypothesis that DNA variations in the ferritin genes are not a common cause for PD.

AB - Background: Genes that regulate iron metabolism may be involved in increasing brain iron content in Parkinson disease (PD). The ferritin L-chain is one of these genes, but the rare insertional mutations that cause neuroferritinopathy with basal ganglia degeneration have not yet been identified in PD. Methods: We used denaturing HPLC (DHPLC) to investigate 124 PD patients and 180 controls for variations in the coding and in the 5′ untranslated regions of the H- and L-ferritin genes. Results: In the H-ferritin gene, we found one new and rather common intronic polymorphism and the K54R substitution in two controls. The L-ferritin gene showed a very common L55L polymorphism and four other types of DNA variations, three of which were in the patient cohort. A mutation of the conserved His133 to Pro was found in a PD patient and in his daughter. The patient did not show signs of neuroferritinopathy, but the mutation was associated with low L-ferritin levels and with mild chronic anemia. Conclusions: The results support the hypothesis that DNA variations in the ferritin genes are not a common cause for PD.

UR - http://www.scopus.com/inward/record.url?scp=35648946448&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=35648946448&partnerID=8YFLogxK

U2 - 10.1515/CCLM.2007.307

DO - 10.1515/CCLM.2007.307

M3 - Article

C2 - 17970701

AN - SCOPUS:35648946448

VL - 45

SP - 1450

EP - 1456

JO - Clinical Chemistry and Laboratory Medicine

JF - Clinical Chemistry and Laboratory Medicine

SN - 1434-6621

IS - 11

ER -

Foglieni B, Ferrari F, Goldwurm S, Santambrogio P, Castiglioni E, Sessa M et al. Analysis of ferritin genes in Parkinson disease. Clinical Chemistry and Laboratory Medicine. 2007 Nov 11;45(11):1450-1456. https://doi.org/10.1515/CCLM.2007.307