MovDisordV3, Main, Curation, bibRecord, 004344

Polymorphisms in iron‐responsive binding protein 2 and lack of association with sporadic Parkinson's disease

Identifieur interne : 004344 ( Main/Curation ); précédent : 004343; suivant : 004345

Polymorphisms in iron‐responsive binding protein 2 and lack of association with sporadic Parkinson's disease

Auteurs : Pauline L. Lee [États-Unis] ; Terri Gelbart [États-Unis] ; Carol West [États-Unis] ; Carol Halloran [États-Unis] ; Jack C. Sipe [États-Unis] ; Ernest Beutler [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2002-11.

RBID : ISTEX:C3AAF4617096FFE43C29EEC79C33BE89EEB9734E

Descripteurs français

Pascal (Inist)
- Génétique, Homme, Parkinson maladie, Physiopathologie, Polymorphisme, Protéine IRP2, Sporadique.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- African Continental Ancestry Group (genetics), Aged, Alleles, Chromosomes, Human, Pair 15, DNA Mutational Analysis, European Continental Ancestry Group (genetics), Exons, Female, Gene Frequency (genetics), Genetics, Genetics, Population, Heterozygote Detection, Human, Humans, IRP2, Iron Regulatory Protein 2 (genetics), Male, Middle Aged, Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Pathophysiology, Polymorphism, Polymorphism, Genetic (genetics), SNPs, Sequence Analysis, DNA, Sporadic, iron‐responsive binding protein, polymorphisms.
MESH :
- chemical , genetics : Iron Regulatory Protein 2.
- genetics : African Continental Ancestry Group, European Continental Ancestry Group, Gene Frequency, Parkinson Disease, Polymorphism, Genetic.
- Aged, Alleles, Chromosomes, Human, Pair 15, DNA Mutational Analysis, Exons, Female, Genetics, Population, Heterozygote Detection, Humans, Male, Middle Aged, Sequence Analysis, DNA.

Abstract

Mice with targeted disruptions in the iron‐responsive binding protein 2 (IRP2) gene accumulate iron in distinct regions of the brain and develop neurodegenerative characteristics resembling Parkinson's disease after 6 months of age. To determine whether polymorphisms in IRP2 predispose humans to Parkinson's disease (PD), we sequenced the IRP2 gene of subjects with sporadic PD and normal controls. Three polymorphisms which result in an amino acid change were identified: L159V, F272L, and T560I. The L159V and T560I polymorphisms, identified in an African‐American PD subject, were found in the African‐American population at an allele frequency of 0.102 (n = 1,236) and 0.111 (n = 1,228), respectively, and were not associated with an increased prevalence of PD. The F272L polymorphism was found in a normal 58‐year‐old, Caucasian subject whose father had PD, but it was not observed in 38 additional patients with sporadic PD. The F272L polymorphism occurred at an allele frequency of 0.0014 (n = 1,384) in the normal Caucasian population. Additional F272L heterozygous subjects identified in the normal population did not have a family or personal history of PD. We conclude that these IRP2 polymorphisms do not play an important role in the development of sporadic cases of PD. It remains to be determined whether other polymorphisms in IRP2 play a role in familial PD. © 2002 Movement Disorder Society

Url:

https://api.istex.fr/document/C3AAF4617096FFE43C29EEC79C33BE89EEB9734E/fulltext/pdf

DOI: 10.1002/mds.10253

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<front><div type="abstract" xml:lang="en">Mice with targeted disruptions in the iron‐responsive binding protein 2 (IRP2) gene accumulate iron in distinct regions of the brain and develop neurodegenerative characteristics resembling Parkinson's disease after 6 months of age. To determine whether polymorphisms in IRP2 predispose humans to Parkinson's disease (PD), we sequenced the IRP2 gene of subjects with sporadic PD and normal controls. Three polymorphisms which result in an amino acid change were identified: L159V, F272L, and T560I. The L159V and T560I polymorphisms, identified in an African‐American PD subject, were found in the African‐American population at an allele frequency of 0.102 (n = 1,236) and 0.111 (n = 1,228), respectively, and were not associated with an increased prevalence of PD. The F272L polymorphism was found in a normal 58‐year‐old, Caucasian subject whose father had PD, but it was not observed in 38 additional patients with sporadic PD. The F272L polymorphism occurred at an allele frequency of 0.0014 (n = 1,384) in the normal Caucasian population. Additional F272L heterozygous subjects identified in the normal population did not have a family or personal history of PD. We conclude that these IRP2 polymorphisms do not play an important role in the development of sporadic cases of PD. It remains to be determined whether other polymorphisms in IRP2 play a role in familial PD. © 2002 Movement Disorder Society</div>
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<front><div type="abstract" xml:lang="en">Mice with targeted disruptions in the iron-responsive binding protein 2 (IRP2) gene accumulate iron in distinct regions of the brain and develop neurodegenerative characteristics resembling Parkinson's disease after 6 months of age. To determine whether polymorphisms in IRP2 predispose humans to Parkinson's disease (PD), we sequenced the IRP2 gene of subjects with sporadic PD and normal controls. Three polymorphisms which result in an amino acid change were identified: L159V, F272L, and T560I. The L159V and T560I polymorphisms, identified in an African-American PD subject, were found in the African-American population at an allele frequency of 0.102 (n = 1,236) and 0.111 (n = 1,228). respectively, and were not associated with an increased prevalence of PD. The F272L polymorphism was found in a normal 58-year-old, Caucasian subject whose father had PD, but it was not observed in 38 additional patients with sporadic PD. The F272L polymorphism occurred at an allele frequency of 0.0014 (n = 1,384) in the normal Caucasian population. Additional F272L heterozygous subjects identified in the normal population did not have a family or personal history of PD. We conclude that these IRP2 polymorphisms do not play an important role in the development of sporadic cases of PD. It remains to be determined whether other polymorphisms in IRP2 play a role in familial PD.</div>
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<term>DNA Mutational Analysis</term>
<term>European Continental Ancestry Group (genetics)</term>
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<term>Female</term>
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<front><div type="abstract" xml:lang="en">Mice with targeted disruptions in the iron‐responsive binding protein 2 (IRP2) gene accumulate iron in distinct regions of the brain and develop neurodegenerative characteristics resembling Parkinson's disease after 6 months of age. To determine whether polymorphisms in IRP2 predispose humans to Parkinson's disease (PD), we sequenced the IRP2 gene of subjects with sporadic PD and normal controls. Three polymorphisms which result in an amino acid change were identified: L159V, F272L, and T560I. The L159V and T560I polymorphisms, identified in an African‐American PD subject, were found in the African‐American population at an allele frequency of 0.102 (n = 1,236) and 0.111 (n = 1,228), respectively, and were not associated with an increased prevalence of PD. The F272L polymorphism was found in a normal 58‐year‐old, Caucasian subject whose father had PD, but it was not observed in 38 additional patients with sporadic PD. The F272L polymorphism occurred at an allele frequency of 0.0014 (n = 1,384) in the normal Caucasian population. Additional F272L heterozygous subjects identified in the normal population did not have a family or personal history of PD. We conclude that these IRP2 polymorphisms do not play an important role in the development of sporadic cases of PD. It remains to be determined whether other polymorphisms in IRP2 play a role in familial PD. © 2002 Movement Disorder Society</div>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Polymorphisms in iron‐responsive binding protein 2 and lack of association with sporadic Parkinson's disease

Polymorphisms in iron‐responsive binding protein 2 and lack of association with sporadic Parkinson's disease

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