(Latest Update ) Genetics
| Questions & Answers | Grade A |
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Genetic Mutations and Disorders
Question:
what are mitochondrial disorders
Answer:
human disorders attributed to mutations in mitochondria
Question:
what is a key piece of information about mitochondrial disorders?
Answer:
inheritance must be maternal versus mendelian meaning the mother must
pass along the disorder
,Question:
What are other requirements for mitochondrial disorders
Answer:
deficiency in the bioenergetic function of mitochondria and there must be at
least one or more detectable mutations
Question:
what is one example of a mitochondrial disorder?
Answer:
Myoclonic epilepsy and ragged-red fiber disease (MERRF)
Question:
what are the characteristics of Myoclonic epilepsy and ragged-red fiber
disease (MERRF)
Answer:
severe lack of muscle coordination, dementia and epileptic seizures;
mitochondria proliferate and display ragged-red splotches along edges of
muscle fibers
, Question:
Why does MERRF look like this?
Answer:
Mitochondria are a mix of normal and mutated, so it is a heterogeneous mix
called heteroplasmy
Question:
Are there other disorders?
Answer:
yes, often they do not arise until later in age
Question:
leber's hereditary optic neuropathy
Answer:
Sudden bilateral blindness
Question:
Kearns-Sayer syndrome (KSS)
Answer:
deletions in mtDNA, asymptomatic as children and gradually develop hearing
and vision loss as well as heart conditions