Convulsive disorder and genetic polymorphism. Association of idiopathic generalized epilepsy with haptoglobin polymorphism

Haptoglobin is a polymorphic protein that is well known for its hemoglobin (Hb)-binding property. The protein shows gross differences in molecular size among genotypes, resulting in different degrees of diffusion in central nervous system tissue. Since the breakdown of erythrocytes in the intracereb...

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Bibliographic Details
Published in:Neurogenetics 2004-12, Vol.5 (4), p.245-248
Main Authors: SACCUCCI, P, VERDECCHIA, M, PICIULLO, A, BOTTINI, N, RIZZO, R, GLORIA-BOTTINI, F, LUCARELLI, P, CURATOLO, P
Format: Article
Language:English
Subjects:
Adult
Antioxidants
Biological and medical sciences
Child
Child, Preschool
Convulsions & seizures
Epilepsy
Epilepsy, Generalized - genetics
Epilepsy, Generalized - metabolism
Exons
Female
General aspects. Genetic counseling
Genetics
Genotype
Haptoglobins - chemistry
Haptoglobins - genetics
Haptoglobins - metabolism
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Infant
Male
Medical disorders
Medical genetics
Medical sciences
Molecular Weight
Nervous system (semeiology, syndromes)
Neurology
Oxidation
Oxidative Stress - genetics
Polymorphism
Polymorphism, Genetic
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Summary:Haptoglobin is a polymorphic protein that is well known for its hemoglobin (Hb)-binding property. The protein shows gross differences in molecular size among genotypes, resulting in different degrees of diffusion in central nervous system tissue. Since the breakdown of erythrocytes in the intracerebral fluid results in Hb-mediated free OH radical formation, lipid peroxidation, and increased neuronal excitability, a differential diffusion of haptoglobin phenotypes in the intracerebral fluid might result in a different degree of protection from oxidative damage. We have studied two samples of children with idiopathic generalized epilepsy from two different Italian populations. In both samples the haptoglobin *1/*1 genotype is much less represented in epileptic children than in controls. These observations suggest that subjects carrying the Hp*1/*1 genotype, that has the lowest molecular size and diffuses more readily in the interstitial cerebral fluid, are more protected against idiopathic generalized epilepsy than those with other haptoglobin genotypes.
ISSN:1364-6745
1364-6753
DOI:10.1007/s10048-004-0192-1