Lecture 22 Flashcards Preview

Molecule to Malady > Lecture 22 > Flashcards

Flashcards in Lecture 22 Deck (24):
1

The most common form of MND is

amyotrophic lateral sclerosis

2

___ forms of MN are affected in MND

both

3

True or False

All MN disease are progressive and ultimately fatal

True

4

Symptoms of NMD are:

Muscle twitching
Muscle weakness
Difficulty Speaking
Difficulty swallowing
Tripping, stumbling, dropping things
Progressive paralysis
Decreased respiratory function

5

peak age of onset is...

45-60 years

6

Muscle atrophy can occur later on - causing a loss of muscle ____

Muscle mass

7

True or False

There is no diagnostic test for MND

true

Diagnosis is purely clinical - a process of exclusion

8

The timeframe for symptom progression is ________

variable

9

There is usually a lack of ____ in terms of muscle atrophy

There is usually a lack of symmetry in terms of muscle atrophy

10

With the drug, Rilutek - there is no correlation between ___ and _____ ______

With the drug, Rilutek - there is no correlation between dose and clinical outcome

11

The majority of cases of MND are _____, meaning no ____ _____,

The majority of cases of MND are sporatic, meaning no family history, very sudden

12

Mutations in Cu/Zn ______ ________ gene associated with familial amyotrophic lateral sclerosis

Mutations in Cu/Zn superoxide dismutase (SOD1) gene associated with familial amyotrophic lateral sclerosis

13

Cu/Zn superoxide dismutase is expressed in all cells - true?

yes

14

the primary role of Cu/Zn superoxide dismutase is to ..

detoxify toxic superoxide radicals

Major anti-oxidant enzyme in the body

15

Cu/Zn superoxide dismutase has about __ AAs and binds one __ ion and one ___ion

Cu/Zn superoxide dismutase has about 150 AAs and binds one copper ion and one zinc ion

16

it is believed that _______ mutations in SOD1 cause MND

substitution

17

True or False

You get MND due to a loss of fnction of SOD1

False

it is a toxic gain of function

18

What are some possible cause of how mutant SOD1 causes MND?

Abberant pro-oxidant gain of function

Protein midfolding

Protein aggregation

Mitochondrial dysfunction

19

Approximately ___% of MND cases are sporadic

Approximately 90% of MND cases are sporadic

20

10% of the familial cases of MND most are autosomal ______

dominant

21

SOD1 mutation mouse models can be used to study MND - this has shown the the more mutant SOD1...

the more severe motor neuron pathology = more severe phenotype

but maybe not!! It depedns what state SOD1 is in

22

Prospective drug has been shown to ______ the levels of mutant SOD1

Prospective drug has been shown to increase the levels of mutant SOD1

but the mice get better...?!

23

The SOD1 protein exists in 3 different states:

Apo - No metals (barely exists - degraded rapidly)

Metal-deficient = one but no the other

Holo = both metals (normal functional form)

24

It is possible that 'drug' causes an _______ in the normal state of SOD1 by adding __ to the spinal cord

It is possible that 'drug' causes an increase in the normal state of SOD1 by adding Cu to the spinal cord