Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.

Isabelle Martin; Patrick Vourc'H; Marie Mahé; Rose-Anne Thépault; Catherine Antar; Sylviane Védrine; Julien Praline; William Camu; Christian R Andres; Philippe Corcia; French Amyotrophic Lateral Sclerosis Als Group

Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.

Isabelle Martin ¹ Patrick Vourc'H ¹ Marie Mahé ¹ Rose-Anne Thépault ¹ Catherine Antar ¹ Sylviane Védrine ¹ Julien Praline ¹ William Camu ² Christian R Andres ¹ Philippe Corcia ^{3, *} French Amyotrophic Lateral Sclerosis Als Group ⁴

* Auteur correspondant

1 Imagerie et cerveau

2 SLA CHRU Montpellier - Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier]

3 Centre SLA

4 NETEC - Neuroépidémiologie Tropicale et Comparée

Abstract : Ubiquitin inclusions represent a cytopathological hallmark of ALS. The ubiquitin-dependent protein degradation pathway may also be involved in the pathophysiology of SOD1 mutated ALS cases as demonstrated in transgenic animals. UBE2H is an ubiquitin conjugating enzyme known to act on histones and cytoskeletal proteins, both involved in the degenerative pathway of the motor neuron. We screened the whole coding sequence of the UBE2H gene in 24 sporadic ALS (SALS) patients using single strand conformation polymorphism (SSCP). All variants detected by SSCP were analysed by genomic DNA sequencing. We found one known polymorphism (rs12539800) and two new synonymous single nucleotide polymorphisms (SNP) (nG78A and nG501A). The allele distribution of the rs12539800 (A336G) SNP were tested for association in 252 SALS patients and 357 controls. The allele and genotype distributions were identical in the two groups. The UBE2H gene is not implicated in SALS; however, the ubiquitin pathway is worthy of further investigation in ALS.

Type de document :

Article dans une revue

Domaine :

Sciences du Vivant [q-bio] / Santé publique et épidémiologie

Liste complète des métadonnées

https://hal-unilim.archives-ouvertes.fr/hal-00926733
Contributeur : Elisabeth Grelier <>
Soumis le : vendredi 10 janvier 2014 - 10:39:40
Dernière modification le : jeudi 11 juillet 2019 - 16:04:02

Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.

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Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.

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