Inheritable Biotin-Treatable Disorders and Associated Phenomena

Sweetman, Lawrence; Nyhan, William L.

doi:10.1146/annurev.nu.06.070186.001533

Cited by 108 publications

(16 citation statements)

References 105 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The vitamin (a carboxyl carrier) acts as a cofactor for five carboxylases, four of which are located in the mitochondria and one in the cytoplasm (24,25,51). These carboxylases play a critical role in a variety of metabolic reactions that include gluconeogenesis, fatty acid synthesis, and amino acid catabolism (24,25,51). Biotin has also been shown to play a role in regulating gene expression (38).…”

mentioning

confidence: 99%

Inhibition of intestinal biotin absorption by chronic alcohol feeding: cellular and molecular mechanisms

Subramanya

Subramanian

Kumar

et al. 2011

American Journal of Physiology-Gastrointestinal and Liver Physi

View full text Add to dashboard Cite

The water-soluble vitamin biotin is essential for normal cellular functions and its deficiency leads to a variety of clinical abnormalities. Mammals obtain biotin from exogenous sources via intestinal absorption, a process mediated by the sodium-dependent multivitamin transporter (SMVT). Chronic alcohol use in humans is associated with a significant reduction in plasma biotin levels, and animal studies have shown inhibition in intestinal biotin absorption by chronic alcohol feeding. Little, however, is known about the cellular and molecular mechanisms involved in the inhibition in intestinal biotin transport by chronic alcohol use. These mechanisms were investigated in this study by using rats and transgenic mice carrying the human full-length SLC5A6 5'-regulatory region chronically fed alcohol liquid diets; human intestinal epithelial Caco-2 cells chronically exposed to alcohol were also used as models. The results showed chronic alcohol feeding of rats to lead to a significant inhibition in carrier-mediated biotin transport events across jejunal brush border and basolateral membrane domains. This inhibition was associated with a significant reduction in level of expression of the SMVT protein, mRNA, and heterogenous nuclear RNA. Chronic alcohol feeding also inhibited carrier-mediated biotin uptake in rat colon. Studies with transgenic mice confirmed the above findings and further showed chronic alcohol feeding significantly inhibited the activity of SLC5A6 5'-regulatory region. Finally, chronic exposure of Caco-2 cells to alcohol led to a significant decrease in the activity of both promoters P1 and P2 of the human SLC5A6 gene. These studies identify for the first time the cellular and molecular parameters of the intestinal biotin absorptive processes that are affected by chronic alcohol feeding.

show abstract

mentioning

confidence: 99%

Inhibition of intestinal biotin absorption by chronic alcohol feeding: cellular and molecular mechanisms

Subramanya

Subramanian

Kumar

et al. 2011

American Journal of Physiology-Gastrointestinal and Liver Physi

View full text Add to dashboard Cite

show abstract

“…An impaired metabolism as well as the loss of vitamins during hemodialysis is often associated with the limited intake of fresh fruits and vegetables and other dietary restrictions which could lead to a deficiency of water-soluble vitamins including Biotin (9,13,16,18).…”

Section: Discussionmentioning

confidence: 99%

Are patients with chronic renal failure (CRF) deficient in Biotin and is regular Biotin supplementation required? (Ist bei chronisch niereninsuffizienten Patienten eine Biotin supplementation erforderlich)

Jung

Helbich-Endermann

Bitsch

et al. 1998

Zeitschrift f�r Ern�hrungswissenschaft

View full text Add to dashboard Cite

In 23 patients with chronic renal failure (CRF), 23 patients on chronic intermittent hemodialysis treatment (DP), 22 patients after renal transplantation (RT) and 40 normal persons (NP), Biotin plasma levels and the urinary excretion were analysed and compared to the dietary Biotin intake. Unsupplemented DP had lower intake of Biotin than the CRF, RT, NP and DP with supplementation. DP excreted only 1.6-6.3% of the daily intake as compared to 39.7% in NP, 27.6% in CRF and 24.3% in RT. In unsupplemented DP patients, Biotin plasma levels were elevated by 4 times and in supplemented patients by 6 times compared to NP. During hemodialysis treatment, the Biotin plasma level dropped by about 30% in DP with and by 33% in DP without vitamine supplementation. However, after 44 hours, the initial concentration was reached again in those receiving vitamine supplementation (99% of basal level) and in DP without substitution (97% of basal level). Only in male DP significantly higher Biotin plasma levels before HD were detected irrespective of the supplementation dose as compared to female patients (30 micrograms and 300 micrograms Biotin after each dialysis session). Biotin plasma concentration did not vary with respect to the underlying renal disease, the serum creatinine concentration and the length and frequency of dialysis treatment, including the type of dialyzer (low- vs high flux) used and the blood flow rate (QB 180-260 vs 270-280 vs 300 ml/min). There were no major effects of the age of the patients (< 60 years vs > 60 years), the BMI, nicotine abuse, or alcohol intake on Biotin blood concentration. Our results showed normal Biotin plasma levels which reflect a normal functional status and exclude a functional deficit, therefore there is no reason for a regular Biotin supplementation in patients with chronic renal failure.

show abstract

“…THE ESSENTIAL MICRONUTRIENT biotin acts as a coenzyme catalyzing fundamental steps in multiple pathways involved in fatty acid biosynthesis, gluconeogenesis, and catabolism of several branched-chain amino acids and odd-chain fatty acids (5,7,38). Insufficient biotin levels have been shown to lead to clinical aberrations, including neurological disorders, growth retardation, and dermal abnormalities (5,7,38,39).…”

mentioning

confidence: 99%

mentioning

confidence: 99%

“…Insufficient biotin levels have been shown to lead to clinical aberrations, including neurological disorders, growth retardation, and dermal abnormalities (5,7,38,39). Certain causes of biotin deficiency include inborn errors of biotin metabolism (5,7,38), long-term therapy with anticonvulsant agents (13,15,16), or parenteral nutrition (14,17,19). In addition, suboptimal biotin levels have been reported during pregnancy (20), in a substantial number of alcoholics (6,12), in patients with inflammatory bowel diseases (4,39), and in infants with seborrheic dermatitis and Leiner's disease (18,21).…”

mentioning

confidence: 99%

See 1 more Smart Citation

Regulation of the human biotin transporter hSMVT promoter by KLF-4 and AP-2: confirmation of promoter activity in vivo

Reidling¹,

Said²

2007

American Journal of Physiology-Cell Physiology

View full text Add to dashboard Cite

The mechanism of biotin uptake in human intestine has been well characterized and involves the human sodium-dependent multivitamin transporter (hSMVT), yet little is known about the molecular/transcriptional regulation of the system. Previous investigations cloned the 5' regulatory region of the hSMVT gene and identified the minimal promoter. To expand these investigations, we compared activity of the hSMVT promoter in three human intestinal epithelial cell lines (NCM460, Caco-2, and HuTu-80) and contrasted a renal epithelial cell line (HEK-293). We analyzed the role of putative cis-elements in regulating promoter activity and confirmed activity of the cloned hSMVT promoter in vivo. In vitro studies demonstrated that all cell lines utilized the same minimal promoter region, and mutation of specific cis-regulatory elements [Kruppel-like factor 4 (KLF-4) and activator protein-2 (AP-2)] led to a decrease in promoter activity in all intestinal cell types but not in renal cells. Using electrophoretic mobility shift assays, we identified two specific DNA/protein complexes. Using oligonucleotide competition and antibody supershift analysis, we determined that KLF-4 and AP-2 were involved in forming the complexes. In HEK-293 cells, overexpressing KLF-4 increased the endogenous hSMVT message levels threefold and activated a cotransfected hSMVT promoter-reporter construct. In vivo studies using hSMVT promoter-luciferase transgenic mice established physiological relevance and showed the pattern of hSMVT promoter expression to be similar to endogenous mouse SMVT mRNA expression. The results demonstrate, for the first time, the importance of KLF-4 and AP-2 in regulating the activity of the hSMVT promoter in the intestine and provide direct in vivo confirmation of hSMVT promoter activity.

show abstract

Inheritable Biotin-Treatable Disorders and Associated Phenomena

Cited by 108 publications

References 105 publications

Inhibition of intestinal biotin absorption by chronic alcohol feeding: cellular and molecular mechanisms

Inhibition of intestinal biotin absorption by chronic alcohol feeding: cellular and molecular mechanisms

Are patients with chronic renal failure (CRF) deficient in Biotin and is regular Biotin supplementation required? (Ist bei chronisch niereninsuffizienten Patienten eine Biotin supplementation erforderlich)

Regulation of the human biotin transporter hSMVT promoter by KLF-4 and AP-2: confirmation of promoter activity in vivo

Contact Info

Product

Resources

About