GLUTI deficiency syndrome (GLUTIDS) is a genetic disease caused by mutations in the GLUTI protein, which leads to reduced or impaired expression of glucose transporters on the blood-brain barrier. As a result, individuals with GLUTIDS often exhibit intellectual disabilities below the normal level. Based on the function of GLUTI on the blood-brain barrier, explain the possible causes of intellectual disabilities.

Q: Orotic aciduria is a rare hereditary disorder due to deficient orotate phosphoribosyltransferase and…

A: Introduction Orotic aciduria is a pyrimidine metabolism error and an autosomal recessive disorder…

Q: A teenager was admitted to the hospital with extreme muscle pain, lightheadedness and fatigue after…

A: Cellular respiration is a metabolic process that is made up of three metabolic pathways: glycolysis,…

Q: Leber's Hereditary Optic Neuropathy (LHON) is a disease that involves degeneration of neural cells…

A: The mitochondrion is an organelle that is found in large numbers in most eukaryotic cells. The…

Q: What does the fact that the two histograms overlap as much asthey do indicate about the extent to…

A: Introduction  PCSK-9 (Proprotein convertase subtilisin-like kexin type 9) is newly discovered serine…

Q: . Suggest the effects of each of the following mutations on the physio- logical role of…

A: Chymotrypsin produce in the pancreas and becomes active in the small intestine part which duodinum

Q: Leber’s Hereditary Optic Neuropathy (LHON) is a disease that involves degeneration of neural cells…

A: IMPORTANT POINT IO NOTE. 1.  It cause loss of central vision by degeneration retinal ganglion cells…

Q: None

A: In the provided cell diagram for a patient with adrenoleukodystrophy (ALD), several key structures…

Q: Cori’s disease, is an autosomal recessive metabolic disorder that is characterized by defects in the…

A: Cori’s disease, is an autosomal recessive metabolic disorder that is characterized by defects in the…

Q: True or False Activation of a G protein complex causes a conformational change in the α subunit,…

A: Introduction In the cytoskeleton, microtubules, which are the polymers of alpha- and beta-tubulin,…

Q: Can you please elaborate why blocking the inhibitory G protein from deactivating adenylate cyclase…

A: The inhibitory G protein has a role in the body’s biochemistry, including in the peripheral regions…

Q: There are several congenital disorders of fructose metabolism resulting from a variety of enzyme…

A: Fructose is a type of sugar known as a monosaccharide. Like other sugars, fructose provides four…

Q: One of the treatments for sickle cell anemia is hydroxyurea, which is known to induce the expression…

A: The most important mutation is the third one where serine replaces histidine. Whereas histidine is…

Q: Explain the metabolic pathway deficiency that causes the autosomal recessive disorder…

A: Introduction Metabolic diseases are any of the disorders or diseases disrupting the normal metabolic…

Q: Glucose-6-phosphatase deficiency (G6PD), also known as von Gierke disease, is glycogen storage…

A: Introduction Carbohydrates, proteins, and fats are the three macronutrients that are present in our…

Q: Cholera is an acute, diarrheal disease caused by infection of the intestine with the gram-negative,…

A: Proteins are high molecular weight biomolecules made up of amino acid residues linked via peptide…

Q: When pertaining to fumarase deficiency and the organelle mitochondria, how does this particular…

A: Fumarase deficiency is a result of a genetic condition that is passed down from the parents to the…

Q: In studies trying to understand the regulation of hormone-sensitive adenylate cyclase, it was…

A: Understanding the intricate regulation of hormone-sensitive adenylate cyclase is pivotal in…

Q: Yarrowia lipolytica(Yl) is a non-conventional yeast that diverged from baker’s yeast, Saccharomyces…

A: Allosteric enzymes are those enzymes whose catalytic activity is regulated in response of certain…

Q: There are several congenital disorders of fructose metabolism resulting from a variety of enzyme…

A: Fructose-1,6-bisphosphate deficiency is a metabolic clinical disorder in which body is not able to…

Q: Explain the underlying cause of inborn errors of metabolism (a diagram can be used to illustrate…

A: Inborn errors of metabolism are metabolic disorders which occurs due to the genetic disorders which…

Q: Epigenetics may be partially responsible for the childhood epidemic of obesity. Explain.

A: The study of how your behaviors and environment can cause changes that affect the working of your…

Q: Yarrowia lipolytica(Yl) is a non-conventional yeast that diverged from baker’s yeast, Saccharomyces…

A: Yarrowia lipolytica (Yl) of PFK-2 is highly suspect in allosteric changes in graph than compared of…

Q: One form of anemia results when individuals have a deficiency in the enzyme phosphatidylinositol…

A: Complement decay-accelerating factor (CD55 or DAF) is a protein that is transcribed and translated…

Q: Increased ROS levels are a hallmark for Alzheimer's Disease. This is accurately described by all but…

A: Within a cell, reactive oxygen species are produced as a byproduct of oxygen metabolism and the cell…

Q: compare the structures of the peptide neurotransmitters Met-enkephalin and Leu-enkephalin

A: Enkephalins, which play a role in memory, learning, emotional activity, and pain, are compounds…

Q: The rate of the reaction of glycogenn with inorganic phosphate, P₁, to form glucose-1-phosphate and…

A: For a chemical reaction: The rate law equation below describes the mathematical relation between the…

Q: Acatalasemia is a rare autosomal recessive condition that results in no expression of the enzyme…

A: Autosomal recessive disease is a disease in which both the copies of the gene get mutated.

Q: Which of the following would result in an increase in the amount of F-2,6-BP? (select all that…

A: F-2,6-BP (fructose-2,6-bisphosphate) plays a critical role in regulating glycolysis, specifically…

Gene Interactions

When the expression of a single trait is influenced by two or more different non-allelic genes, it is termed as genetic interaction. According to Mendel's law of inheritance, each gene functions in its own way and does not depend on the function of another gene, i.e., a single gene controls each of seven characteristics considered, but the complex contribution of many different genes determine many traits of an organism.

Gene Expression

Gene expression is a process by which the instructions present in deoxyribonucleic acid (DNA) are converted into useful molecules such as proteins, and functional messenger ribonucleic (mRNA) molecules in the case of non-protein-coding genes.