Podcast
Questions and Answers
Which of the following is NOT a function of mitochondria?
Which of the following is NOT a function of mitochondria?
- Transcription and translation of mitochondrial genes (correct)
- Production of ATP
- Generation of reactive oxygen species (ROS)
- Metabolism of lipids
How many genes are encoded on the mitochondrial genome?
How many genes are encoded on the mitochondrial genome?
- 24
- 37 (correct)
- 16
- 22
Which of the following is NOT a component of the electron transport chain?
Which of the following is NOT a component of the electron transport chain?
- Cytochrome C oxidase
- Cytochrome B
- ATPase (correct)
- NADH dehydrogenase subunits
What is the main cause of ROS accumulation in mitochondria?
What is the main cause of ROS accumulation in mitochondria?
Which type of DNA is primarily responsible for inherited disorders of mitochondria?
Which type of DNA is primarily responsible for inherited disorders of mitochondria?
How many mitochondrial gene products are needed to produce ATP?
How many mitochondrial gene products are needed to produce ATP?
How many genes on the mitochondrial genome encode for non-mRNA products?
How many genes on the mitochondrial genome encode for non-mRNA products?
Which part of the cell synthesizes most mitochondrial proteins?
Which part of the cell synthesizes most mitochondrial proteins?
Which organelle is known as the 'powerhouse' of the cell?
Which organelle is known as the 'powerhouse' of the cell?
What is the approximate number of mitochondria found in most nucleated cells?
What is the approximate number of mitochondria found in most nucleated cells?
In which type of cell do mitochondria make up 80% of the intracellular volume?
In which type of cell do mitochondria make up 80% of the intracellular volume?
How many protein coding genes are there in the human nuclear genome?
How many protein coding genes are there in the human nuclear genome?
What percentage of the human nuclear genome is composed of 'protein coding' sequences?
What percentage of the human nuclear genome is composed of 'protein coding' sequences?
How many genes are there in the mitochondrial genome?
How many genes are there in the mitochondrial genome?
What is the term used to describe the inheritance pattern of mitochondria?
What is the term used to describe the inheritance pattern of mitochondria?
What is the term used to describe the phenomenon where an individual has a mixture of normal and mutant mitochondrial DNA?
What is the term used to describe the phenomenon where an individual has a mixture of normal and mutant mitochondrial DNA?
Which organ systems are especially affected by mitochondrial diseases?
Which organ systems are especially affected by mitochondrial diseases?
What is the main source of genetic diversity in mitochondrial DNA?
What is the main source of genetic diversity in mitochondrial DNA?
What is heteroplasmy?
What is heteroplasmy?
What is the main difference between homoplasmy and heteroplasmy?
What is the main difference between homoplasmy and heteroplasmy?
What is the relationship between mtDNA mutations in somatic cells and heritability?
What is the relationship between mtDNA mutations in somatic cells and heritability?
What is the term for a high proportion of pathogenic mtDNA in oocytes?
What is the term for a high proportion of pathogenic mtDNA in oocytes?
What is the main factor that influences the phenotypic expression of mitochondrial diseases?
What is the main factor that influences the phenotypic expression of mitochondrial diseases?
What is a characteristic of diseases associated with mtDNA mutations?
What is a characteristic of diseases associated with mtDNA mutations?
What is the main source of inherited disorders of mitochondria?
What is the main source of inherited disorders of mitochondria?
Which of the following is a characteristic of Leber Hereditary Optic Neuropathy (LHON)?
Which of the following is a characteristic of Leber Hereditary Optic Neuropathy (LHON)?
What is the main factor that influences the risk of developing mitochondrial diseases?
What is the main factor that influences the risk of developing mitochondrial diseases?
Which of the following is NOT a characteristic of mitochondrial diseases?
Which of the following is NOT a characteristic of mitochondrial diseases?
What is the main source of genetic diversity in mitochondrial DNA?
What is the main source of genetic diversity in mitochondrial DNA?
Which organ systems are especially affected by mitochondrial diseases?
Which organ systems are especially affected by mitochondrial diseases?
What is the term used to describe the phenomenon where an individual has a mixture of normal and mutant mitochondrial DNA?
What is the term used to describe the phenomenon where an individual has a mixture of normal and mutant mitochondrial DNA?
Which of the following is the most common age of onset for Leigh Syndrome?
Which of the following is the most common age of onset for Leigh Syndrome?
What is the estimated incidence of Leigh Syndrome in births?
What is the estimated incidence of Leigh Syndrome in births?
Which genetic defect is associated with the NARP mutation?
Which genetic defect is associated with the NARP mutation?
What is the most likely pattern of inheritance for Leigh Syndrome?
What is the most likely pattern of inheritance for Leigh Syndrome?
What is the main source of genetic diversity in mitochondrial DNA?
What is the main source of genetic diversity in mitochondrial DNA?
What is the term used to describe the phenomenon where an individual has a mixture of normal and mutant mitochondrial DNA?
What is the term used to describe the phenomenon where an individual has a mixture of normal and mutant mitochondrial DNA?
What is the main factor that influences the phenotypic expression of mitochondrial diseases?
What is the main factor that influences the phenotypic expression of mitochondrial diseases?
What is the term used to describe the process of mitochondrial transplantation or donation?
What is the term used to describe the process of mitochondrial transplantation or donation?
What is the main cause of ROS accumulation in mitochondria?
What is the main cause of ROS accumulation in mitochondria?
Which symptom of LHON is most likely to improve over time?
Which symptom of LHON is most likely to improve over time?
Which point mutation of mitochondrial DNA is generally most common in Asians and Caucasians with LHON?
Which point mutation of mitochondrial DNA is generally most common in Asians and Caucasians with LHON?
Which statement about heteroplasmy in LHON is true?
Which statement about heteroplasmy in LHON is true?
Which disease has been found to be higher among individuals with mtDNA haplogroup H?
Which disease has been found to be higher among individuals with mtDNA haplogroup H?
Is there an equivalent for the male line to mitochondrial DNA?
Is there an equivalent for the male line to mitochondrial DNA?
Is mitochondrial DNA inheritance exclusively matrilineal?
Is mitochondrial DNA inheritance exclusively matrilineal?
What symptom was NOT present in the 2-year-old boy, Kevin, with Leigh Syndrome?
What symptom was NOT present in the 2-year-old boy, Kevin, with Leigh Syndrome?
What diagnostic finding was NOT observed in the 2-year-old boy, Kevin, with Leigh Syndrome?
What diagnostic finding was NOT observed in the 2-year-old boy, Kevin, with Leigh Syndrome?
Study Notes
Mitochondrial Functions and Characteristics
- Mitochondria are not responsible for transcription and translation of nuclear genes.
- Mitochondrial genome encodes 37 genes.
- Mitochondrial gene products are necessary for producing ATP.
Mitochondrial DNA and Inheritance
- Mitochondrial DNA is primarily responsible for inherited disorders of mitochondria.
- Mitochondrial DNA is inherited exclusively through the maternal line.
- The term used to describe the inheritance pattern of mitochondria is maternal inheritance.
- Heteroplasmy is a mixture of normal and mutant mitochondrial DNA in an individual.
- The main source of genetic diversity in mitochondrial DNA is mutations in the mitochondrial genome.
Mitochondrial Diseases and Characteristics
- Mitochondrial diseases are especially prevalent in the nervous and muscular systems.
- The main factor that influences the phenotypic expression of mitochondrial diseases is the proportion of mutant mitochondrial DNA.
- A characteristic of diseases associated with mtDNA mutations is variable expressivity.
- The main source of inherited disorders of mitochondria is mitochondrial DNA mutations.
Specific Mitochondrial Diseases
- Leber Hereditary Optic Neuropathy (LHON) is a characteristic of mitochondrial disease.
- The main factor that influences the risk of developing mitochondrial diseases is the proportion of mutant mitochondrial DNA.
- Leigh Syndrome is a mitochondrial disease with a most common age of onset in infancy.
- The estimated incidence of Leigh Syndrome in births is 1 in 40,000.
- The genetic defect associated with the NARP mutation is a mitochondrial DNA mutation.
Mitochondrial Function and ROS
- The main cause of ROS accumulation in mitochondria is electron transport chain dysfunction.
- Mitochondrial transplantation or donation is described as mitochondrial replacement therapy.
Miscellaneous
- Mitochondria make up 80% of the intracellular volume in oocytes.
- The approximate number of mitochondria found in most nucleated cells is 100-1000.
- The human nuclear genome consists of 20,000-25,000 protein coding genes.
- The percentage of the human nuclear genome composed of 'protein coding' sequences is 1.5%.
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Description
Test your knowledge on mitochondrial genetics and inherited disorders in this quiz. Learn about heteroplasmy and how it affects the phenotype of mitochondrial disease. Understand the matrilineal inheritance pattern of mitochondria.
