Question

Part 2 (1 point) See Hint Mutation of the muscle-specific intermediate filament desmin leads to the rare disease desmin-related myopathy. This disorder starts with weakness of the lower limbs when patients are in their 20s or 30s. As symptoms worsen, weakness in respiratory and cardiac muscles occurs, which can lead to serious problems including sudden cardiac arrest. Which of the following mutations would disrupt desmin intermediate filament structure or function and could explain the symptoms of desmin-related myopathy? Choose all of the possible mutations. Choose one or more: n A. Alteration in head groups, so tetramers are unable to link end to end. B. Alteration in the twist or coiling of the dimers, blocking formation of staggered tetramers. n C. Mutation such that formation of dimers is blocked. D. Disruption of the polarity of the final desmin strands

Help me choose please

Answer 1

Answer all of the above

Desmin is an intermediate filament which have structural role in cell by forming protein filaments, in the process of assembly fist they form dimers and tetramers by forming coil's later which they form uniform filaments. Any alteration in the above process due to defective proteins leads to defective assembly and formation of protein aggregate's of desmin, desmin aggregates also aggregate with other proteins through out the cells. Hense, all above cases in which defective tetrameres, dimer formation or coiling, or disruption of desmin polarity leads to desmin related myopathy.