Podcast
Questions and Answers
What major motor skills were lost by the child at 12 months of age?
What major motor skills were lost by the child at 12 months of age?
- Writing and drawing
- Crawling and fine motor skills
- Sucking and head control (correct)
- Running and jumping
What condition was discovered through the MRI at 12 months of age?
What condition was discovered through the MRI at 12 months of age?
- Liver failure
- Enlarged heart
- Brain lesions (correct)
- Bone fractures
Which theory explains the origin of mitochondria?
Which theory explains the origin of mitochondria?
- Cell Theory
- Organic Molecular Theory
- Endosymbiotic Theory (correct)
- Evolutionary Theory
What evidence supports the Endosymbiotic Theory regarding mitochondria?
What evidence supports the Endosymbiotic Theory regarding mitochondria?
What is one of the compartments of the mitochondria?
What is one of the compartments of the mitochondria?
What is found in the inner mitochondrial membrane that is essential for ATP synthesis?
What is found in the inner mitochondrial membrane that is essential for ATP synthesis?
What vision issue was noted by 18 months of age in the child?
What vision issue was noted by 18 months of age in the child?
What crucial aspect of mitochondria suggests their prokaryotic origin?
What crucial aspect of mitochondria suggests their prokaryotic origin?
What respiratory problem was noted by 18 months of age?
What respiratory problem was noted by 18 months of age?
What is a common age range for the onset of Leigh's Syndrome?
What is a common age range for the onset of Leigh's Syndrome?
What does heteroplasmy refer to in the context of mtDNA?
What does heteroplasmy refer to in the context of mtDNA?
What are some identified causes of mitochondrial diseases?
What are some identified causes of mitochondrial diseases?
Which of the following events related to mtDNA 3 parent IVF occurred first?
Which of the following events related to mtDNA 3 parent IVF occurred first?
Which of the following symptoms is commonly associated with Leigh's Syndrome?
Which of the following symptoms is commonly associated with Leigh's Syndrome?
What major benefit does mitochondrial replacement therapy potentially provide to parents?
What major benefit does mitochondrial replacement therapy potentially provide to parents?
What is the prognosis for individuals diagnosed with Leigh's Syndrome?
What is the prognosis for individuals diagnosed with Leigh's Syndrome?
What is NOT a characteristic symptom of mitochondrial diseases?
What is NOT a characteristic symptom of mitochondrial diseases?
What is the status of mitochondrial replacement therapy (MRT) in Canada?
What is the status of mitochondrial replacement therapy (MRT) in Canada?
Which ethical consideration is raised regarding mitochondrial replacement therapy?
Which ethical consideration is raised regarding mitochondrial replacement therapy?
Which enzyme deficiency is linked to Leigh's Syndrome?
Which enzyme deficiency is linked to Leigh's Syndrome?
How common are mitochondrial diseases in the general population?
How common are mitochondrial diseases in the general population?
What was the maximum penalty for altering the genome of a human cell in Canada under the Assisted Human Reproduction Act?
What was the maximum penalty for altering the genome of a human cell in Canada under the Assisted Human Reproduction Act?
In Leigh Syndrome French Canadian Type, what mutation is implicated?
In Leigh Syndrome French Canadian Type, what mutation is implicated?
What process is closely associated with the symptoms of mitochondrial diseases?
What process is closely associated with the symptoms of mitochondrial diseases?
Which of the following factors can influence the severity of mitochondrial diseases?
Which of the following factors can influence the severity of mitochondrial diseases?
What is the primary role of Complex I in the electron transport chain?
What is the primary role of Complex I in the electron transport chain?
How many ATP molecules are theoretically produced from one molecule of glucose during oxidative phosphorylation?
How many ATP molecules are theoretically produced from one molecule of glucose during oxidative phosphorylation?
What is the consequence of the proton gradient generated by the electron transport chain?
What is the consequence of the proton gradient generated by the electron transport chain?
Which complex in the electron transport chain uses oxygen?
Which complex in the electron transport chain uses oxygen?
Which molecule contributes to the electron transport chain through Complex II?
Which molecule contributes to the electron transport chain through Complex II?
What is the function of ATP synthase in the mitochondria?
What is the function of ATP synthase in the mitochondria?
What is the charge characteristic of the mitochondrial membrane potential?
What is the charge characteristic of the mitochondrial membrane potential?
What is the primary source of electrons entering the electron transport chain?
What is the primary source of electrons entering the electron transport chain?
Which of these processes is not a function of the mitochondria?
Which of these processes is not a function of the mitochondria?
How many ATP molecules are generated from one molecule of FADH2?
How many ATP molecules are generated from one molecule of FADH2?
What is the primary energy molecule produced during cellular respiration in the mitochondria?
What is the primary energy molecule produced during cellular respiration in the mitochondria?
Which of the following statements about glycolysis is true?
Which of the following statements about glycolysis is true?
What role does Pyruvate Dehydrogenase (PDH) play in cellular metabolism?
What role does Pyruvate Dehydrogenase (PDH) play in cellular metabolism?
Which statement is correct regarding the process of cataplerosis?
Which statement is correct regarding the process of cataplerosis?
How does calcium homeostasis impact cellular function?
How does calcium homeostasis impact cellular function?
What is the overall reaction for the conversion of pyruvate to Acetyl CoA?
What is the overall reaction for the conversion of pyruvate to Acetyl CoA?
What is the significance of Acetyl CoA in metabolism?
What is the significance of Acetyl CoA in metabolism?
What is a key function of mitochondria in relation to apoptosis?
What is a key function of mitochondria in relation to apoptosis?
Which pathway allows pyruvate to be used for energy in the absence of oxygen?
Which pathway allows pyruvate to be used for energy in the absence of oxygen?
Which metabolic process occurs primarily in the cytosol?
Which metabolic process occurs primarily in the cytosol?
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Study Notes
Leigh's Syndrome
- Progressive neurometabolic disorder affecting infants between three months and two years of age
- Occurs in 1 in 77,000 births
- Caused by at least 26 enzymatic defects, including pyruvate dehydrogenase (PDH) deficiency and respiratory chain enzyme (ETC) defects in Complexes I, II, IV, and V.
- Characterized by deficient ATP production, severe mitochondrial defects, and cellular apoptosis.
- No cure, prognosis is poor with life expectancy ranging from a few years to the mid-teens.
Mitochondrial Diseases
- Refers to a group of disorders caused by mutations in mitochondrial DNA (mtDNA) or nuclear-encoded mitochondrial proteins (nuclear DNA), leading to mitochondrial dysfunction
- Common symptoms include insufficient ATP production, impaired calcium homeostasis, abnormal cell signaling and function, and increased cell death.
- Affect approximately 1 in 6000 people, with symptoms ranging from mild to severe
- Currently, no cure, but research is ongoing.
Leigh Syndrome French Canadian Type
- First described in the Saguenay-Lac-Saint-Jean region of Canada
- Estimated to occur in 1 in 2000 live births, with approximately 1 in 23 individuals carrying the mutation (possible founder effect)
- Characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism, and delayed development
- Caused by mutations in the LRPPRC gene, a protein involved in the stability of mitochondrially-encoded mRNAs.
Heteroplasmy and Mitochondrial Disease Severity
- Heteroplasmy refers to the presence of more than one type of mtDNA within a cell or individual
- The proportion of mutated mtDNA can determine the severity of mitochondrial diseases.
Mitochondrial Replacement Therapy (MRT)
- A technique involving the transfer of nuclear DNA from a mother's egg to a donor egg with healthy mitochondria
- Successfully tested in mice since 1990
- Successful transfer of pronuclear DNA between day 1 single-cell human embryos in 2008, resulting in normal development to the blastocyst stage
- Successfully conducted on primates in 2009, with no detectable carryover of maternal mtDNA
- Approved for use in the UK in 2015, with the first baby born using this method in 2017
- Remains illegal in Canada due to the Assisted Human Reproduction Act (2004)
- Potential benefits include allowing parents to have children genetically related to them, potentially free from mitochondrial disorders, with this protection passed on to future generations
Ethical Considerations of MRT
- Concerns surrounding the identity of offspring, potential for "designer babies," and the slippery slope of genetic intervention
- The status and rights of the donor mother, as well as the possibility of long-term adverse effects that may not be immediately apparent
- The ethical implications of implementing an experimental treatment on future generations.
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