Elastin ( ELN ) gene point mutation in patients with inguinal hernia

Groin hernias emerge at the myopectineal orifice of Fruchaud which is closed off by the fascia transversalis. Our previous studies showed structural and quantitative changes of the fascia transversalis elastic fibers of inguinal hernia patients and elderly people. The present study used single-strand conformation polymorphism (SSCP) elastin (analysis to investigate the 34 exons of the ELN gene of 49 inguinal hernia patients (7 females, 42 males aged 58.7 ± 19.82 years) and 75 non-herniated controls (35 females, 40 males aged 46.2 ± 14.32 years). We found that 47 patients and 24 controls had an abnormal exon 20 pattern caused by a g28197A > G missense mutation leading to an S422G amino acid substitution in the elastin hydrophobic domain. The g28197A > G allele frequency was 0.71 ± 0.045 in hernia patients and 0.21 ± 0.030 in controls and 23 patients and 7 controls were g28197A > G homozygous and 24 patients and 17 controls were heterozygous. This point-mutation showed a statistically significant association with inguinal hernia, chi-squared being 46.89 (p < 0.001) and the odds ratio 49.93 (95 percent confidence interval of @11 to 223). These results indicate that the g28197A > G mutation is involved in the genesis of inguinal hernia (possibly due to abnormal elastic fiber production) and explains impaired fascia transversalis function.

Alterações moleculares do gene da elastina nos pacientes portadores de hérnia inguinal / Molecular alterations of elastin gene in inguinal hernia patients

O objetivo do presente estudo foi verificar a ocorrência de mutações do gene da elastina nos pacientes portadores de hérnia inguinal. Estudou-se o DNA genômico de 19 pacientes com hérnia inguinal e 16 controles. Os 34 exons do gene foram amplificados e foi realizada a análise conformacional de fita simples. Observou-se bandas anormais no exon 20. O seqüenciamento do exon 20 revelou uma dupla substituição de bases no códon 404 em 78 por cento e 50 por cento dos pacientes idosos e adultos com hérnia inguinal respectivamente e a substituição de uma base no códon 422 em todos os pacientes com hérnia inguinal, em todos os indivíduos controles idosos e em 37,5 por cento dos indivíduos controles adultos. É possível que estas mutações possam estar relacionadas à produção de moléculas de elastina alteradas e desempenhem papel na gênese da hérnia inguinal.The present study was designed to verify the presence of elastin gene mutations from genomic DNA in patients with inguinal hernia. Nineteen adult patients with diagnosed inguinal hernia and 16 controls were analyzed. All 34 exons were amplified and mutations were sought by single strand conformation polymorphism. DNA amplification revealed an abnormal band in exon 20. Sequencing showed a double base substitution in codon 404 in 78 per cent of the elderly hernia patients and in 50 per cent of the younger hernia group. It also revealed a single base substitution in codon 422 in all inguinal hernia patients, in all the elderly controls as well as in 37,5 per cent of the younger controls. It is possible that these elastin mutations may be responsible for the production of abnormal elastic fibers, thus playing a role in inguinal hernia genesis...