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two siblings who received a refined diagnosis of BTBGD following whole-genome sequencing. Both children inherited compound heterozygous mutations from unaffected parents; a missense single-nucleotide variant (p.G23V) in the first transmembrane domain of the protein, and a 4808-bp deletion in exon 1 encompassing the 5' UTR (zeige UTS2R ELISA Kits) and minimal promoter region.
Using aggregated exome sequencing data, we calculate the carrier frequency of mutations in SLC19A3 as 1 in 232 individuals in the general population, for an estimated prevalence of the disease of approximately 1 in 215,000 individuals. The disease is thus more frequent than previously recognized
Genetic variations in SLC19A3 play an important role in the pathogenesis of severe diabetic retinopathy and nephropathy and may explain why some individuals with type 1 diabetes are less prone than others to develop microvascular complications.
Genetic screening of SLC19A3 mutation is crucial to diagnosis autosomal recessive biotin-thiamine-responsive basal ganglia disease in asymptomatic relatives presenting with unexplained subacute encephalopathy and abnormal movements.
The direct binding and activation of SLC19A3 expression by HIF-1alpha (zeige HIF1A ELISA Kits) during hypoxic stress
The mutation of SLC19A3 is related to Biotin-thiamine-responsive basal ganglia disease.
Species differences in the substrate specificity of THTR-2 between human and mouse orthologues were observed.
large genomic deletions occur in the regulatory region of SLC19A3 in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy
Genetic variation in the SLC19A3 thiamine transporter at 2:228563818T/C may make a modest contribution towards the genetic susceptibility to alcohol dependence syndrome.
This study provided evidence that biotin-thiamine-responsive basal ganglia disease is the result of SLC19A2 (zeige SLC19A2 ELISA Kits) mutation.
showed that acute neurodegeneration caused by thiamine deficiency is preventable in most parts, and prompt high-dose thiamine administration is critical for the treatment of THMD2. However, reduction of thiamine should be performed carefully to prevent recurrence after recovery of the disease
THTR-2 is required for normal uptake of thiamin in the intestine and can fulfill normal levels of uptake in conditions associated with THTR-1 (zeige DDA1 ELISA Kits) dysfunction.
Pancreatic beta cells and islets take up thiamine by a regulated THTR1 (zeige DDA1 ELISA Kits)/2-mediated process.
This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD)\; a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.
solute carrier family 19, member 3
, thiamine transporter 2
, thiamine transporter 2-like
, solute carrier family 19 (sodium/hydrogen exchanger), member 3