To screen for SQSTM1/p62 gene in Chinese patients with familial amyotrophic lateral sclerosis carrying superoxide dismutase 1 mutation / 中华内科杂志

ABSTRACT

Objective To explore the clinical features and SQSTM1/p62 gene mutations in Chinese Han patients with familial amyotrophic lateral sclerosis linked superoxide dismutase 1 (SOD1) mutation (FALS-SOD1).Methods A total of 13 FALS-SOD1 probands and 100 healthy controls were studied,with DNA extracted from the peripheral blood.Sequencing was carried out at 8 exons,intron-exon boundaries and promoter region (2-kb upstream from the coding sequence) of SQSM1/p62.Clinical data were collected and all patients were followed-up.Phenotype-genotype relationship was analyzed.Results The insertion of T was found in intron 5 of SQSTM1/p62 gene [+ 1 insert T (TT ＞ TG)] in a FALS-SOD1 G16A male proband,with limbs as the symptom onset and faster disease progression than the other two SOD1 G16A probands without SQSTM1/p62 gene mutation.Conclusions The insertion of T in the intron 5 of SQSTM1/ p62 gene may promote the ALS progression by damaging p62 function in the FALS-SOD1 G16A proband.