Dr. Younger Diseases B3 Flashcards

1
Q

disease associated with Strand Directed Mismatch Repair (HNPCC)

A

hereditary nonpolyposis colorectal cancer (associated with strand directed mismatch repair).

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2
Q

Know the cause and DNA defect associated with xeroderma pigmentosum.

A

If you remember that was a thymine dimer that can be driven or caused by the presence of UV light. So if you have a lot of UV light but you don’t have the ability to fix the damage caused by it you will end up with a condition called xeroderma pigmentosum and that is as a result of the inability to repair thymine dimers that are caused by UV light. That is actually pretty important because I think that is a lot of time on the face because it is hard to cover your face up completely so a lot of times these people will actually have issues with eye orbital inflammation and stuff like that due to all the damage that is on the face.

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3
Q
  1. Know that Rifampin binds and inhibits the core
A

And know that Rifampin which is an antibiotic will bind the core enzyme and inhibit its ability to produce transcript.

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4
Q
  1. Be able to characterize Systemic Lupus Erythematosus as an autoimmune system. That an “anti-nuclear antibody panel” functions in the diagnosis process and that it is often observed in young females. In addition to many other problems such as weakness and joint pain, a bilateral facial rash (butterfly rash) is common.
A

That is actually important because it is pretty prevalent. It’s a condition when a person is very, very weak. They have very, very sore bones, especially at the joints, and this is as a result of an autoimmune disease that recognizes double stranded DNA and sNRPs as a target. So when you don’t have the ability to fix damage due to UV, this is case when the person is going to have a rash on their face. A person could have some eye infection issues also.

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5
Q
  1. Know that Alpha-amanitin, a toxin from the Death Cap Mushroom (Amanita phalloides) is the cause of 95% of mushroom fatalities and that the toxin functions by binding RNA polymerase-II and inhibits transcription/mRNA synthesis in eukaryotes
A

– I’m not sure how much you guys need to know that but an interesting tidbit about 95% of all mushroom deaths are attributed to alpha-amanitin toxin that comes from the death cap mushroom and it inhibits RNA polymerase activity, RNA polymerase II, and in this case right here we’re talking in mammals and in humans, so RNA polymerase II should suggest to you is the polymerase that is doing most of the transcription.

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