The human thiamine transporter hTHTR1 is involved in the cellular accumulation of thiamine (vitamin B1) in many tissues. Thiamine deficiency disorders, such as thiamine-responsive megaloblastic anemia (TRMA), which is associated with specific mutations within hTHTR1, likely impairs the functionality and/or intracellular targeting of hTHTR1. Unfortunately, nothing is known about the mechanisms t...

Rogers syndrome (Thiamine responsive megaloblastic anaemia-TRMA) occurs due to defect in the SLC19A2 gene. and SLC19A3 genes encode THTR1 2 respectively, which are thiamine transporter proteins. The gene is expressed inner ear cells, β-islet hematopoietic stem cells; consequently, typical clinical trial of TRMA diabetes, TRMA, sensorineural hearing loss. This syndrome, eponymously called Roger’...

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents. The patient was found to have a novel homozygous change R397X in exon 4 of the SLC19A2 gene, leading...

Twenty-seven inmates from a detention centre in Perak were evaluated for possible causes of their ankle oedema. Physical examination and biochemical evaluation did not show any evidence of renal or hepatic dysfunction. The cardiac origin of their problem was suggested by the presence of other signs of heart failure in three of them and by radiological evidence of cardiomegaly in 40% of them. Al...

Fits for the calculation of solvatochromic regression coefficients were done using the regression tool for the complexation of dioxovanadium(V) with iminodiacetic acid (IDA) and dissociation constants at T = 298 K and constant ionic strength of 0.1 mol dm-3 sodium perchlorate in different volume fractions of methanol (0 to 45 percent). A combination of potentiometric and UV spectrophotometric m...

Riboswitches are regions of mRNA to which a metabolite binds in the absence of proteins, resoulting in alteration of transcription, translation or splicing. The most widespread forms of riboswitches are those responsive to TPP (thiamine pyrophosphate) the active form of vitamin B1, thiamine. TPP-riboswitches have been found in all bacterial genomes examined, and are the only ones found in eukar...