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MedGen > Mito > Flashcards

Mito Flashcards

1
Q

What is your basal metabolic rate?

A

minimum # of calories needed at rest for energy for overall cell/organ function

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2
Q

What tissues require the most of our BMR?

A

Organs (brain, liver, heart, kidneys) - 58%

Skeletal muscle (22%)

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3
Q

Why are vitamine necessary?

A

function as cofactors that are necessary for pathways

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4
Q

If your pH drops below 7.2 you are in:

A

acidosis

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5
Q

If your pH rises above 7.5 you are in:

A

alkalosis

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6
Q

What macromolecule are neurotransmitters made from?

A

amino acids

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7
Q

What level should our blood glucose be at for adequate organ fxn?

A

80-120mg/dl

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8
Q

Fatty acids are the main source of energy for what organs?

A

muscle and heart

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9
Q

What’s the most effective way to measure enzyme activity?

A

tissue biopsy

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10
Q

Mitochondrial conditions result from mutations in what genes?

A

mtDNA or nDNA

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11
Q

Defects in the Krebs cycle are often caused by? Fatty acids? respiratory chain?

A

AR nDNA
nDNA
mtDNA from mom and AR conditions

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12
Q

What are some other functions of mitochondria?

A 
DNA synthesis
Heme synthesis
Urea cycle
hormone synthesis
neurotransmitter metabolism
free radical production and detox
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13
Q

What happens in cells with defective mitochondria?

A
  • no ATP
  • severe impact of other mito fxn
  • free radicals accumulate
  • lactic acidosis
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14
Q

How many oxidative phosphorylation complexes exist? What genes code for them? How can we measure their activity?

A

5
mtDNA and nDNA
fresh or frozen muscle biopsy

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15
Q

How many nDNA genes do we have? mtDNA?

A

850 nDNA vs. 13 mtDNA

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16
Q

How do nDNA mutations result in disease (this came from our lecture but I don’t like it now that I see it again)?

A

autosomal recessive inheritance

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17
Q

What is unique about mtDNA?

A
  • closed, circular DNA
  • maternally inherited
  • thousands of copies per cell
  • copy number is dynamic
18
Q

3243A>G in mtDNA accounts for 90% of what condition?

A

MELAS

19
Q

What are three factors we should consider with mito conditions?

A

heteroplasmy
tissue distribution
threshold effect (vulnerability of each tissue to impaired oxidative metabolism)

20
Q

how common are mitochondrial diseases?

A

1:4,000 in children in US by age 10

21
Q

Mitochondrial diseases are typically _______ and _________.

A

progressive and mutlisystemic

22
Q

What types of organs are most impacted by mito conditions? ex?

A

those with high energy demand

skeletal and cardiac muscle, endocrine organs, kidney, motility in intestinal tract, retina, central nervous system

23
Q

when might we suspect a mito condition?

A

seeing involvement of 3 or more organ systems without a unifying dx

24
Q

What are some of the neurologic red flags for mito conditions?

A
  • stroke-like lesions in non-vascular patterns
  • basal ganglia disease
  • encephalopathy
  • intractable epilepsy
  • myoclonus (esp. in children)
  • ataxia
  • MRI findings consistent with Leigh
  • MRS peaks
25
Q

What are some of the cardio red flags for mito conditions?

A
  • hypertrophic cardiomyopathy with rhythm disturbance
  • unexplained heart block in child
  • cardiomyopathy with lactic acidosis
  • dilated cardiomyopathy with muscle weakness
  • Wolff-Parkinson-White arrhythmia
26
Q

What are some of the ophthalmologic red flags for mito conditions?

A

-retinal degenration with signs of night blindness, color-vision deficits, decreased visual acuity, or pigmentary retinopathy
-not able to move eyes
-roving eyes
-ptosis (droopy eyelids)
sudden blindness

27
Q

What are some of the GI red flags for mito conditions?

A
  • unexplained or valproate liver-failure
  • severe dysmotility
  • pseudo-obstructive episodes
28
Q

What are some other red flags for mito conditions?

A
  • newborn, infant, or young child wit unexplained hypotonia, weakness, FTT, and metabolic acidosis (particularly lactic)
  • exercise intolerance not proportionate to weakness
  • hypersensitivity to general anesthesia
  • episodes of acute rhabdomyolysis
  • fibromyalgia in young people
29
Q

What are the most common expression of enchephalomyopathy in mito conditions?

A

hearing impairment, migraine-like headaches, and seizures

30
Q

does a normal lactate rule out mitochondrial disorders?

A

no - lactate may only rise during episodes

Leigh, Kearns-Sayre syndrome, Leber, and others frequently occur with little or no lactate elevation

31
Q

What deos MELAS stand for?

When does MELAS typically present? Features? Main mutation?

A

MItochondrial Encephalopathy-Lactic Acidsosis-Stroke-Like episodes

  • childhood to early adulthood
  • recurrent strokes that manifest as migraine-like headaches, vomiting and (less often) seizures, and can cause permanent brain damage
  • can occur in infancy with DD and LD before first stroke
    mutation: m.3243A>G (>80%)
32
Q

How can we treat MELAS?

A

Arginine may have some protective benefit

33
Q

When does KSS present? Its features?

A
  • <20y
  • progressive external ophthalmoplegia (initail) and pigmentary retinopathy, salt-and-pepper pigmentation in retina, conduction block in heart, ataxia
34
Q

What mutation(s) often cause KSS?

A

deletions of mtDNA

common one is m.8470_13446del4977

35
Q

When does Pearson syndrome present? Features?

If these individuals survive they often develop:

A

infancy

severe anemia and malfunction of pancreas

KSS

36
Q

When doe Leigh syndrome present? Features? Leads to?

A

infancy

brain abn that may result in ataxia, seizures, impaired vision and hearing, DD and altered control over breathing

causes muscle weakness (swallowing, speech, and eye movement)

poor outcome

37
Q

This condition presents in infancy with muscle weakness and/or liver failure and possibly brain abn.

A

MDS

38
Q

This condition presents in late childhood to adolescence with myoclonus, seizures, ataxia and muscle weakness. It also can cause hearing impairment and short stature.

A

MERRF (myoclonus epilepsy with ragged red fibers)

39
Q

This condition presents typically <20y with PEO, ptosis, limb weakness and GI problems (dhronic diarrhea and abdominal pain) and peripheral neuorpathy.

A

MNGIE

40
Q

This condition presents in infancy to adulthood with neuropathy, ataxia, and retinitis pigmentosa. Perhaps DD, seizures, and dementia

A

NARP

MedGen (15 decks)

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