Leigh syndrome is characterized by psychomotor regression: that is, the progressive loss of mental andmovement abilities. Patients also suffer from lacticacidosis, a condition in which mitochondrial respiration is deficient, so their tissues metabolize glucoseanaerobically, leading to the buildup of lactate. Somepatients with Leigh syndrome have a mutation in themitochondrial gene MT-CO3, which encodes a subunit of the electron transport complex cytochromec oxidase. Other patients diagnosed with Leigh syndrome have a loss-of-function mutation in the nucleargene SURF1, which encodes a factor needed for theassembly of this same enzyme complex.a. How can the same symptoms result from mutationsin a mitochondrial gene and from mutations in anuclear gene?

Leigh syndrome is characterized by psychomotor regression: that is, the progressive loss of mental andmovement abilities. Patients also suffer from lacticacidosis, a condition in which mitochondrial respiration is deficient, so their tissues metabolize glucoseanaerobically, leading to the buildup of lactate. Somepatients with Leigh syndrome have a mutation in themitochondrial gene MT-CO3, which encodes a subunit of the electron transport complex cytochromec oxidase. Other patients diagnosed with Leigh syndrome have a loss-of-function mutation in the nucleargene SURF1, which encodes a factor needed for theassembly of this same enzyme complex.a. How can the same symptoms result from mutationsin a mitochondrial gene and from mutations in anuclear gene?

Name: Leigh syndrome is characterized by psychomotor regression: that is, th
Uploaded: 2024-03-20T06:42:55.000Z
Channel: Bartleby
Description: Leigh syndrome is characterized by psychomotor regression: that is, the progressive loss of mental andmovement abilities. Patients also suffer from lacticacidosis, a condition in which mitochondrial respiration is deficient, so their tissues metaboli

Human Physiology: From Cells to Systems (MindTap Course List)

9th Edition

ISBN:9781285866932

Author:Lauralee Sherwood

Publisher:Lauralee Sherwood

Chapter2: Cell Physiology

Section: Chapter Questions

Problem 10RE: Using the answer code on the right, indicate which form of energy production is being described: 1....

See similar textbooks

Similar questions

A genetic disease called glucose-6-phosphate dehydrogenase deficiency is inherited in a manner similar to that of sickle-cell anemia except that it occurs most frequently in males. The defective enzyme cannot keep erythrocytes supplied with sufficient amounts of the antioxidant molecule NADPH NADPH protects cell membranes and other cellular structures from oxidation. Describe in general terms the inheritance pattern of this molecular disease. Why do you think that the antimalarial drug primaquine, which stimulates peroxide formation, results in devastating cases of hemolytic anemia in carriers of the defective gene? Does it surprise you that this genetic anomaly is commonly found in African and Mediterranean populations?
In a rare inherited disorder, called Wilson’s disease, excessive amounts of copper accumulate in liver and brain tissue. A prominent symptom of the disease is the deposition of copper in greenishbrown layers surrounding the cornea, called Kayser–Fleischer rings. A defective ATP-dependent protein that transports copper across cell membranes causes Wilson’s disease. Apparently, the copper transport protein is required to incorporate copper into ceruloplasmin and to excrete excess copper. In addition to a diet low in copper, Wilson’s disease is treated with zinc sulfate and the chelating agent penicillamine (p. 148). Describe how these treatments work. [Hint: Metallothionein has a greater affinity for copper than for zinc.]
In the presence of oxygen, the mitochondrion in yeast is used for aerobic respiration,however, under anaerobic conditions,the yeast mitochondria have been found to have other function. Identify and briefly discuss four of these functions
The Warburg effect is generally observed in cancer cells as a consequence of pyruvate dysmetabolism. Which of the following statements is inaccurate in describing the metabolic switch termed the Warburg effect? P53 function in regulation of glycolysis is lost, preventing proper cellular response of apoptosis Lactate production becomes the major fate of pyruvate Diminished oxidative phosphorylation in the matrix leads to enhanced non-oxidative ATP production Glycolytic flux is increased Pyruvate levels are diminished through the PDHC Pyruvate carboxylase is activated HIF1transcriptional activation leads to increased levels of pyruvate dehydrogenase kinase and lactate dehydrogenase, while enhancing lactate export from the cytosol
Here we utilize a novel, well-characterized, endogenous mitochondrial mutation in the ATP6 gene of Drosophila melanogaster with a nearly complete loss of ATP synthase activity. These Drosophila mutants have a missense mutation in ATP6 (G to A transition resulting in a glycine to glutamate change at position 116 in the protein), the mitochondrial gene encoding subunit 6 of the F1Fo-ATP synthase(complex V of the respiratory chain. ATP6 allows for the hydrogen ion translocation required for the rotation of the Fo motor and the production of ATP from ADP. Drosophila ATP61 mutants model human mitochondrial encephalomyopathy and demonstrate phenotypes associated with degenerative disease, including: reduced longevity, mitochondrial pathology, progressive neural dysfunction, tissue degeneration and locomotor impairment. ATP61 Drosophila mutants exhibit a stereotyped phenotypic progression that is analogous to the symptomatic progression reported for many human mitochondrial disease…
A gene mutation in a cell results in a non-functional MSF protein, explain the role of the MSF protein and the consequences of this loss of function for a mitochondrial matrix protein synthesized in the cytosol.
True or false 1. Cytochrome p450 is considered to be the “universal oxygenase” 2. In alzheimer’s and Parkinson’s diseases, there is hyperphosphorylation of tau that leads to the intracellular accumulation of tau in the form of neurofibrillary tangles.
Glucose-6-phosphatase deficiency (G6PD), also known as von Gierke disease, is glycogen storage disease. It is an autosomal recessive disease occurring most frequently in males of African or Middle Eastern descent. G6PD is involved in many reactions, but we will focus on the following simplified pathway: The conversion of glycogen to glucose is called:
Aerobic respiration, used by the mitochondria of eukaryotic cells, is best represented by which of the following balanced equations? 6CO2 + 12H2S g C6H12O6 + 6S2 + 6H2O C6H12O6 + 6O2 + 6H2O g 6CO2 + 12H2O C12H22O11 + H2O g C6H12O6 + C6H12O6 6CO2 + 12H2O g C6H12O6 + 6O2 + 6H2O C6H12O6 + C6H12O6 g C12H22O11 + H2O
Leber’s Hereditary Optic Neuropathy (LHON) is a disease that involves degeneration of neural cells in the retina and results in loss of central vision. The disease is caused by mutations in any one of three genes in the mitochondrial genome that encode proteins involved in oxidative phosphorylation. In a genetic counseling clinic, a woman and her husband seek advice on the potential that any of their children would be afflicted with LHON. The husband's mother and father, both exhibit symptoms of the disease, but the woman does not. What is a reasonable advising statement to make?
Leber’s Hereditary Optic Neuropathy (LHON) is a disease that involves degeneration of neural cells in the retina and results in loss of central vision. The disease is caused by mutations in any one of three genes in the mitochondrial genome that encode proteins involved in oxidative phosphorylation. In a genetic counseling clinic, a woman and her husband seek advice on the potential that any of their children would be afflicted with LHON. The husband's mother and father, both exhibit symptoms of the disease, but the woman does not. What is a reasonable advising statement to make? a. The couple should be advised that all of their children are likely to display symptoms of LHON. b. There is not enough information to advise this couple. c. The couple should be advised that none of their children will be affected. d. The couple should be advised that all their male children will display symptoms of LHON, but female children will be unaffected. e. The couple should be…
Anaerobic glycolysis of glucose potentially produces a fewer number of ATPs per glucose moleculein red blood cells than in muscle cells, because -Red blood cells contain bisphosphoglycerate mutase -Red blood cells lack phosphoglycerate kinase -Red blood cells do not have mitochondria -Red blood cells do not have a nucleus Which of the following is likely to be correct if all mutases are completely inhibited? -Removal of glucosyl residues from nonreducing ends of glycogen in the liver is compromised;therefore, release of free glucose into blood from the liver would decrease -Glycerol can be efficiently converted into glucose but cannot be efficiently converted into glucosylresidues in glycogen in the liver -Both A and B -Neither A nor B