1. Other diseases of organelles include lysosomal storage diseases and mitochond
ID: 141309 • Letter: 1
Question
1. Other diseases of organelles include lysosomal storage diseases and mitochondrial disorders. Which major cellular functions are lost in these disorders? 2. How are mitochondria inherited? (Maternally, paternally or from both parents?) 3. Recently, reproductive technologies that use genetic material from three parents to avoid mitochondrial diseases have been reported. On OMIM, identify the genes associated with Leigh syndrome and their modes of transmissions. Which of the conditions can be corrected through mitochondrial transplantation? 4. Is ATP synthase (from the question above) monomeric, homo-oligomeric or hetero-oligomeric? 5. Given that the symptoms of diseases associated with defects in organelles tend to overlap, develop a cellular/molecular strategy for distinguishing defects affecting the three organelles from one another. 6. Trace the secretory pathway in eukaryotic cells and highlight the major molecular activities of each stage.Explanation / Answer
1. Lysosomal storage diseases or mitochondrial disorders are a kind of metabolic disorders. Mutations leading to lack of functional protein/complex hinder the basic metabolic functions associated with the organelle. Metabolic burden leads to the cell death and often leads to organ failure in mitochondrial diseases.
2. Mitochondria is solely inherited from mother.
3. OMIM top hits for Leigh syndrome:
#1 MTATP6 gene
#2 MTND5 gene
#3 MTND3 gene
#4 MT-TK gene
#5 MTCO3 gene
All the listed gene are often associated with Mitochondrial disorders. Moreover all the genes listed here are encoded by mtDNA hence can be corrected through mitochondrial transplantation.
4. ATP synthase (Complex V) of mitochondria comprises of almost 10-16 subunit of protein partly encoded by nuclear DNA and partly by mtDNA. Hence it id definitely hetero-oligomeric.
NOTE: First 4 subparts of the entire uestionaire have been answered. Feel free to comment on the answers provided. Thank you.
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