What does HGPRT enzyme do?
The enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is one of the central enzymes that recycle the building blocks of RNA and DNA. It attaches a purine base (either guanine or hypoxanthine, a modified form of adenine) to a sugar, creating a nucleotide.
What does HPRT1 code for?
HPRT1 has a central role in the generation of purine nucleotides through the purine salvage pathway. HPRT1 encodes hypoxanthine phosphoribosyltransferase (EC 2.4.
Why is HPRT1 a housekeeping gene?
Due to the constant requirement for GTP, as both a nucleotide for DNA synthesis and as an energy moleule throughout the cell, HPRT is reliably produced as a housekeeping gene and is found in all somatic tissue in low levels.
Is HPRT1 a housekeeping gene?
In the present study, by using geNorm and NormFinder algorithms, the stabilities of the gene expression of 13 housekeeping genes were investigated, and HPRT1 was identified as the most stable housekeeping gene in gastrocnemius muscles following rat sciatic nerve crush injury.
What is HPRT1 gene?
The HPRT1 gene provides instructions for producing an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme allows cells to recycle purines, a type of building block of DNA and its chemical cousin RNA.
How does HGPRT deficiency cause gout?
The HGPRT deficiency causes a build-up of uric acid in all body fluids. The combination of increased synthesis and decreased utilization of purines leads to high levels of uric acid production. This results in both high levels of uric acid in the blood and urine, associated with severe gout and kidney problems.
Is hypoxanthine a purine?
Hypoxanthine (6-hydroxypurine) is a naturally occurring purine derivative and a deaminated form of adenine, itself a breakdown product of adenosine monophosphate (AMP).
Why are reference genes used in qPCR?
The identification of gold-standard reference genes is crucial to produce reliable qPCR results. The expression of reference genes is used to correct the fluctuations in the target gene expression levels caused by technical variations in the quantity of total RNA or in the cDNA synthesis.
Why is it called real time PCR?
The fluorometer detects that fluorescence in real time as the thermal cycler runs, giving readings throughout the amplification process of the PCR. As a result, quantitative PCR is also called real-time PCR or RT-PCR.
What is the process of RNAi?
RNAi is short for “RNA interference” and it refers to a phenomenon where small pieces of RNA can shut down protein translation by binding to the messenger RNAs that code for those proteins. RNA interference is a natural process with a role in the regulation of protein synthesis and in immunity.
Which of the following cell is made deficiency of HGPRT enzyme?
Answer. Answer: Lesch-Nyhan syndrome is due to deficiency of HGPRT caused by HPRT1 mutation. Some mutations have been linked to gout, the risk of which is increased in hypoxanthine-guanine phosphoribosyltransferase deficiency.
What deficiency causes hyperuricemia?
Vitamin D deficiency and hyperuricemia are recognized as the major public health concerns worldwide. Prevalence of hyperuricemia has been increasing in both developed and developing countries1,2.
What are the causes of hypoxia?
It is due to pump failure (heart is unable to pump enough blood, and therefore oxygen delivery is impaired). Anemic Hypoxia It is because of a decrease in oxygen-carrying capacity due to low hemoglobin leading to inadequate oxygen delivery. Histotoxic Hypoxia (Dysoxia)
What causes hypoxia in asthma?
A severe asthma attack, or flare, can cause hypoxia in adults and kids. During an attack, your airways narrow, making it hard to get air into your lungs.
What is anemia hypoxia?
Anemic Hypoxia It is because of a decrease in oxygen-carrying capacity due to low hemoglobin leading to inadequate oxygen delivery. Histotoxic Hypoxia (Dysoxia)
What causes hypoxia in a police officer?
For example, the choke holds that some law enforcement officers use can cause hypoxia if held too long. Very low blood pressure, which is usually caused by something else, such as a hemorrhage. Smoke inhalation.