Abstract
Mutations in the TARDBP gene, which encodes the Tar DNA binding protein, have been shown to causes of both familial amyotrophic lateral sclerosis (FALS) and sporadic ALS (SALS). Recently, several novel TARDBP exon 6 mutants have been reported in patients with ALS in Europe and America but not in Asia. To further examine the spectrum and frequency of TARDBP exon 6 mutations, we investigated their frequency in ethnic Chinese patients with sporadic ALS. TARDBP exon 6 was screened by direct sequencing in 207 non-SOD1 SALS patients and 230 unrelated healthy controls but no mutations were identified. Our data indicate that exon 6 mutations in TARDBP are not a common cause of SALS in Han Chinese population from Southern Mainland China.
Highlights
Amyotrophic lateral sclerosis (ALS) is a devastating, rapidly progressive, fatal neurodegenerative disorder that develops as a combination of upper and lower motor neuron symptoms
Most (90%) ALS cases are sporadic ALS (SALS), while 5–10% are familial amyotrophic lateral sclerosis (FALS), and SOD1 mutations account for 20%–25% of FALS case
Our findings suggest that exon 6 mutations in TARDBP are not a common cause of SALS in Han Chinese population from Southern Mainland China
Summary
Amyotrophic lateral sclerosis (ALS) is a devastating, rapidly progressive, fatal neurodegenerative disorder that develops as a combination of upper and lower motor neuron symptoms. TARDBP gene, was discovered in 2006 as the second gene associated with ALS It is located on chromosome 1p36.21, contains six exons, and encodes TAR DNA-binding protein 43 (TDP-43), a 43-kDa highly conserved heterogeneous ribonucleoprotein (RNP) involved in specific pre-mRNA splicing and transcription events. It was first described as a regulator of HIV-1 gene expression [1], and is regarded as an important disease protein in ALS where it forms a major component of ubiquitinated motor neuron inclusions [2]. Our findings suggest that exon 6 mutations in TARDBP are not a common cause of SALS in Han Chinese population from Southern Mainland China
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