Neuroferritinopathy

From ferritin structure modification to pathogenetic mechanism

Sonia Levi, Ermanna Rovida

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Neuroferritinopathy is a rare, late-onset, dominantly inherited movement disorder caused by mutations in L-ferritin gene. It is characterized by iron and ferritin aggregate accumulation in brain, normal or low serum ferritin levels and high variable clinical feature. To date, nine causative mutations have been identified and eight of them are frameshift mutations determined by nucleotide(s) insertion in the exon 4 of L-ferritin gene altering the structural conformation of the C-terminus of the L-ferritin subunit. Acting in a dominant negative manner, mutations are responsible for an impairment of the iron storage efficiency of ferritin molecule. Here, we review the main characteristics of neuroferritinopathy and present a computational analysis of some representative recently defined mutations with the purpose to gain new information about the pathogenetic mechanism of the disorder. This is particularly important as neuroferritinopathy can be considered an interesting model to study the relationship between iron, oxidative stress and neurodegeneration.

Original languageEnglish
Pages (from-to)134-143
Number of pages10
JournalNeurobiology of Disease
Volume81
DOIs
Publication statusPublished - Sep 1 2015

Fingerprint

Apoferritins
Ferritins
Mutation
Iron
Frameshift Mutation
Movement Disorders
Genes
Exons
Oxidative Stress
Nucleotides
Neuroferritinopathy
Brain
Serum

Keywords

  • Ferritin
  • Iron
  • Neurodegenerative disorder
  • Neuroferritinopathy
  • Oxidative damage

ASJC Scopus subject areas

  • Neurology

Cite this

Neuroferritinopathy : From ferritin structure modification to pathogenetic mechanism. / Levi, Sonia; Rovida, Ermanna.

In: Neurobiology of Disease, Vol. 81, 01.09.2015, p. 134-143.

Research output: Contribution to journalArticle

@article{0c724c20566d475da331aa88a3957a80,
title = "Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism",
abstract = "Neuroferritinopathy is a rare, late-onset, dominantly inherited movement disorder caused by mutations in L-ferritin gene. It is characterized by iron and ferritin aggregate accumulation in brain, normal or low serum ferritin levels and high variable clinical feature. To date, nine causative mutations have been identified and eight of them are frameshift mutations determined by nucleotide(s) insertion in the exon 4 of L-ferritin gene altering the structural conformation of the C-terminus of the L-ferritin subunit. Acting in a dominant negative manner, mutations are responsible for an impairment of the iron storage efficiency of ferritin molecule. Here, we review the main characteristics of neuroferritinopathy and present a computational analysis of some representative recently defined mutations with the purpose to gain new information about the pathogenetic mechanism of the disorder. This is particularly important as neuroferritinopathy can be considered an interesting model to study the relationship between iron, oxidative stress and neurodegeneration.",
keywords = "Ferritin, Iron, Neurodegenerative disorder, Neuroferritinopathy, Oxidative damage",
author = "Sonia Levi and Ermanna Rovida",
year = "2015",
month = "9",
day = "1",
doi = "10.1016/j.nbd.2015.02.007",
language = "English",
volume = "81",
pages = "134--143",
journal = "Neurobiology of Disease",
issn = "0969-9961",
publisher = "Academic Press Inc.",

}

TY - JOUR

T1 - Neuroferritinopathy

T2 - From ferritin structure modification to pathogenetic mechanism

AU - Levi, Sonia

AU - Rovida, Ermanna

PY - 2015/9/1

Y1 - 2015/9/1

N2 - Neuroferritinopathy is a rare, late-onset, dominantly inherited movement disorder caused by mutations in L-ferritin gene. It is characterized by iron and ferritin aggregate accumulation in brain, normal or low serum ferritin levels and high variable clinical feature. To date, nine causative mutations have been identified and eight of them are frameshift mutations determined by nucleotide(s) insertion in the exon 4 of L-ferritin gene altering the structural conformation of the C-terminus of the L-ferritin subunit. Acting in a dominant negative manner, mutations are responsible for an impairment of the iron storage efficiency of ferritin molecule. Here, we review the main characteristics of neuroferritinopathy and present a computational analysis of some representative recently defined mutations with the purpose to gain new information about the pathogenetic mechanism of the disorder. This is particularly important as neuroferritinopathy can be considered an interesting model to study the relationship between iron, oxidative stress and neurodegeneration.

AB - Neuroferritinopathy is a rare, late-onset, dominantly inherited movement disorder caused by mutations in L-ferritin gene. It is characterized by iron and ferritin aggregate accumulation in brain, normal or low serum ferritin levels and high variable clinical feature. To date, nine causative mutations have been identified and eight of them are frameshift mutations determined by nucleotide(s) insertion in the exon 4 of L-ferritin gene altering the structural conformation of the C-terminus of the L-ferritin subunit. Acting in a dominant negative manner, mutations are responsible for an impairment of the iron storage efficiency of ferritin molecule. Here, we review the main characteristics of neuroferritinopathy and present a computational analysis of some representative recently defined mutations with the purpose to gain new information about the pathogenetic mechanism of the disorder. This is particularly important as neuroferritinopathy can be considered an interesting model to study the relationship between iron, oxidative stress and neurodegeneration.

KW - Ferritin

KW - Iron

KW - Neurodegenerative disorder

KW - Neuroferritinopathy

KW - Oxidative damage

UR - http://www.scopus.com/inward/record.url?scp=84944399809&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84944399809&partnerID=8YFLogxK

U2 - 10.1016/j.nbd.2015.02.007

DO - 10.1016/j.nbd.2015.02.007

M3 - Article

VL - 81

SP - 134

EP - 143

JO - Neurobiology of Disease

JF - Neurobiology of Disease

SN - 0969-9961

ER -