26. Many clinically relevant mitochondrial diseases are caused by mutations in mitochondrial genes affecting tRNAs. For example, one form of MELAS (mito- chondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is caused by a point muta- tion in the gene encoding the mitochondrial tRNALeu whose anticodon recognizes the codons 5' UUA and 5' UUG. The mutation makes the aminoacylation of this tRNA inefficient. a. The rate of synthesis of most mitochondrial proteins is either unaffected or slightly decreased in MELAS cells, but one mitochondrial protein called NAD6 is synthesized at only 10% of the normal rate. How is it possible that the translation of this single mito- chondrial protein might be affected specifically? b. Why might the decreased translation of this one pro- tein be responsible for the pathological condition? c. Researchers are currently investigating ways to treat the symptoms of MELAS patients. One strat- egy involves a change to a nuclear gene. What nu- clear gene might the investigators be targeting? (Assume that you can make any desired change to nuclear genes; we will describe methods to alter genomes in Chapter 18.)

Human Anatomy & Physiology (11th Edition)
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Chapter1: The Human Body: An Orientation
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Ch15 Hartwell genetics from genes to genomes 

26. Many clinically relevant mitochondrial diseases are
caused by mutations in mitochondrial genes affecting
tRNAs. For example, one form of MELAS (mito-
chondrial myopathy, encephalopathy, lactic acidosis
and stroke-like episodes) is caused by a point muta-
tion in the gene encoding the mitochondrial tRNALeu
whose anticodon recognizes the codons 5' UUA and
5' UUG. The mutation makes the aminoacylation of
this tRNA inefficient.
a. The rate of synthesis of most mitochondrial proteins
is either unaffected or slightly decreased in MELAS
cells, but one mitochondrial protein called NAD6 is
synthesized at only 10% of the normal rate. How is
it possible that the translation of this single mito-
chondrial protein might be affected specifically?
b. Why might the decreased translation of this one pro-
tein be responsible for the pathological condition?
c. Researchers are currently investigating ways to
treat the symptoms of MELAS patients. One strat-
egy involves a change to a nuclear gene. What nu-
clear gene might the investigators be targeting?
(Assume that you can make any desired change to
nuclear genes; we will describe methods to alter
genomes in Chapter 18.)
Transcribed Image Text:26. Many clinically relevant mitochondrial diseases are caused by mutations in mitochondrial genes affecting tRNAs. For example, one form of MELAS (mito- chondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is caused by a point muta- tion in the gene encoding the mitochondrial tRNALeu whose anticodon recognizes the codons 5' UUA and 5' UUG. The mutation makes the aminoacylation of this tRNA inefficient. a. The rate of synthesis of most mitochondrial proteins is either unaffected or slightly decreased in MELAS cells, but one mitochondrial protein called NAD6 is synthesized at only 10% of the normal rate. How is it possible that the translation of this single mito- chondrial protein might be affected specifically? b. Why might the decreased translation of this one pro- tein be responsible for the pathological condition? c. Researchers are currently investigating ways to treat the symptoms of MELAS patients. One strat- egy involves a change to a nuclear gene. What nu- clear gene might the investigators be targeting? (Assume that you can make any desired change to nuclear genes; we will describe methods to alter genomes in Chapter 18.)
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