
Concept explainers
(a)
To determine: The prediction that can be made about impaired protein synthesis after the introduction of a missense mutation in the mtAlaRS gene.
Introduction: Infantile cardiomyopathy is a fetal disorder during the first year of life due to the defects in the function of heart muscles. The heart muscles undergo dysfunction due to defects in the function of mitochondria.
(b)
To determine: The reason behind the type of mutation that results in more harmful dysfunction in the translation in mitochondria.
Introduction: The mutation in mitochondrial alanyl-tRNA synthetase is caused by two specific changes in the amino acid. The first change occurs at position 155 from leucine to arginine. The second change occurs at position 592 from arginine to tryptophan.

Want to see the full answer?
Check out a sample textbook solution
Chapter 14 Solutions
Concepts of Genetics Plus Mastering Genetics with Pearson eText -- Access Card Package (12th Edition) (What's New in Genetics)
- What is agricuarrow_forwardWhen using the concept of "a calorie in is equal to a calorie out" how important is the quality of the calories?arrow_forwardWhat did the Cre-lox system used in the Kikuchi et al. 2010 heart regeneration experiment allow researchers to investigate? What was the purpose of the cmlc2 promoter? What is CreER and why was it used in this experiment? If constitutively active Cre was driven by the cmlc2 promoter, rather than an inducible CreER system, what color would you expect new cardiomyocytes in the regenerated area to be no matter what? Why?arrow_forward
- What kind of organ size regulation is occurring when you graft multiple organs into a mouse and the graft weight stays the same?arrow_forwardWhat is the concept "calories consumed must equal calories burned" in regrads to nutrition?arrow_forwardYou intend to insert patched dominant negative DNA into the left half of the neural tube of a chick. 1) Which side of the neural tube would you put the positive electrode to ensure that the DNA ends up on the left side? 2) What would be the internal (within the embryo) control for this experiment? 3) How can you be sure that the electroporation method itself is not impacting the embryo? 4) What would you do to ensure that the electroporation is working? How can you tell?arrow_forward
- Describe a method to document the diffusion path and gradient of Sonic Hedgehog through the chicken embryo. If modifying the protein, what is one thing you have to consider in regards to maintaining the protein’s function?arrow_forwardThe following table is from Kumar et. al. Highly Selective Dopamine D3 Receptor (DR) Antagonists and Partial Agonists Based on Eticlopride and the D3R Crystal Structure: New Leads for Opioid Dependence Treatment. J. Med Chem 2016.arrow_forwardThe following figure is from Caterina et al. The capsaicin receptor: a heat activated ion channel in the pain pathway. Nature, 1997. Black boxes indicate capsaicin, white circles indicate resinferatoxin. You are a chef in a fancy new science-themed restaurant. You have a recipe that calls for 1 teaspoon of resinferatoxin, but you feel uncomfortable serving foods with "toxins" in them. How much capsaicin could you substitute instead?arrow_forward
- What protein is necessary for packaging acetylcholine into synaptic vesicles?arrow_forward1. Match each vocabulary term to its best descriptor A. affinity B. efficacy C. inert D. mimic E. how drugs move through body F. how drugs bind Kd Bmax Agonist Antagonist Pharmacokinetics Pharmacodynamicsarrow_forward50 mg dose of a drug is given orally to a patient. The bioavailability of the drug is 0.2. What is the volume of distribution of the drug if the plasma concentration is 1 mg/L? Be sure to provide units.arrow_forward
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage LearningHuman Biology (MindTap Course List)BiologyISBN:9781305112100Author:Cecie Starr, Beverly McMillanPublisher:Cengage LearningAnatomy & PhysiologyBiologyISBN:9781938168130Author:Kelly A. Young, James A. Wise, Peter DeSaix, Dean H. Kruse, Brandon Poe, Eddie Johnson, Jody E. Johnson, Oksana Korol, J. Gordon Betts, Mark WomblePublisher:OpenStax College
- Biology 2eBiologyISBN:9781947172517Author:Matthew Douglas, Jung Choi, Mary Ann ClarkPublisher:OpenStaxBiology: The Dynamic Science (MindTap Course List)BiologyISBN:9781305389892Author:Peter J. Russell, Paul E. Hertz, Beverly McMillanPublisher:Cengage LearningBiology Today and Tomorrow without Physiology (Mi...BiologyISBN:9781305117396Author:Cecie Starr, Christine Evers, Lisa StarrPublisher:Cengage Learning





