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MedGen (Personal) > Mito > Flashcards

Mito Flashcards

1
Q

At _____ % heteroplasmy, the cell exceeds the threshold for normal functioning and is said to be dysfunctional

A

70%

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2
Q

Which organs are most likely to be affected by metabolic conditions

A

Organs that consume large amounts of energy such as the brain and liver

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3
Q

What would you recommend for a patient diagnosed with MERRF

A

Eat small frequent meals high in carbohydrates

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4
Q

For what patient report would you be least concerned for risk of mitochondrial disorders

A

Single organ affected

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5
Q

Metabolism

A

how the body functions by generating energy through intricate chemical steps from daily nutrients and food consumption

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6
Q

Basal metabolic rate

A

resting rate expenditure - minimum calories needed at rest for energy for overall cell/organ function

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7
Q

Systems that use most metabolism

A

organs - brain, liver, heart and kidneys

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8
Q

Normal pH

A

7.4

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9
Q

of amino acids

A

20

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10
Q

Proteins are made of

A

amino acids

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11
Q

Catabolism

A

Protein breakdown

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12
Q

Blood glucose level

A

80-120 mg/dl

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13
Q

Extra glucose is stored as

A

glycogen

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14
Q

what is the main energy source for cells

A

glucose

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15
Q

fatty acids are absorbed through the ____ and processed in the _____

A

gut and liver

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16
Q

What are the main source of energy for muscle and heart

A

fatty acids

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17
Q

Energy metabolism occurs in the

A

mitochondria

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18
Q

Need what kind of sample to measure enzyme activity

A

biopsy of tissue

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19
Q

Organs that have high energy demand

A

skeletal, cardiac, endocrine, kidney, intestinal tract, retina, CNS

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20
Q

Mitochondrial disease

A

chronic disorders that occur when mitochondria in numerous cells fail to produce sufficient energy for adequate function with subsequent organ failure

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21
Q

Other functions of mitochondria

A

Purine/pyrimidine biosynthesis
Heme synthesis
Urea cycle
Cholesterol metabolism/hormone synthesis
Neurotransmitter metabolism
free radical production and detoxification

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22
Q

What happens in cell with defective mitochondria

A

no ATP
severe impact on other mitochondrial functions
backlog of unused fuel molecules and oxygen
inadequate oxygen supply
lactic acidosis damages muscle and nerve tissue
reactive oxygen species

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23
Q

How to measure activity of oxidative phophorylation (respiratory chain)

A

fresh or frozen muscle biopsy

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24
Q

How many genes does it take to make a mitochondria

A

3000

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25
Q

Electron transport chain is controlled by both

A

mtDNA and nDNA
nDNA - 850 genes
mtDNA - 13 genes

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26
Q

nDNA for electron transport chain is

A

AR

27
Q

mtDNa is

A

maternal
Circular

28
Q

Only how many genes are designated for making ATP

A

100 out of 3000

29
Q

Heteroplasmy

A

presence of a mixture of mutant and normal mtDNA

30
Q

Threshold effect

A

vulnerability of each tissue to impaired oxidative metabolism

31
Q

Mitochondrial disease incidence

A

1:4000 by age 10

32
Q

mitochondrial encephalomyopathy

A

mito problems in muscular and neurological

33
Q

Neurologic red flags for mitochondrial disease

A

MELAS
Basal ganglia disease (Leigh Syndrome)
Encephalopathy
Neurodegeneration
Epilepsia partialis continua
Myoclonus -MERFF
Ataxia - NARP
MRI findings consistent with Leigh disease
Characteristic MRS peaks

34
Q

Cardio red flags for mitochondrial disease

A

Hypertrophic cardiomyopathy with rhythm disturbance
unexplained heart block in child
cardiomyopathy with lactic acidosis
dilated cardiomyopathy with muscle weakness
Wolff-Parkinson-White arrhythmia

35
Q

Ophthalmologic red flags for mitochondrial disease

A

retinal degeneration
Ophthalmoplegia/paresis (not able to move eyes)
Fluctuating, dysconjugate eye movements (roving eyes)
Ptosis (droopy eyelids)
Sudden- or insidious-onset optic neuropathy/atrophy (sudden blindness)

36
Q

Gastroenterologic red flags for mitochondrial disease

A

unexplained or valproate-induced liver failure
severe dysmotility
pseudo-obstructive episodes

37
Q

Other red flags for mitochondrial disease

A

newborn with hypotonia, weakness, FTT, and metabolic acidosis (specificially lactic acidosis)
Exercise intolerance
Hypersensitivity to general anesthesia
Episodes of acute rhabdomyolysis

38
Q

Myopathy

A

muscle weakness and wasting, and exercise intolerance
Weakness and wasting in face and neck muscles
-slurred speech
-difficulty swallowing

39
Q

Encephalomyopathy features

A

hearing impairment, migraine-like headaches and seizures
headaches and seizures accompanied by stroke

40
Q

Diagnostic evaluation of mitochondrial disease

A

lactic acidosis (not sensitive or specific)
Pathogenic mtDNA or nDNA mutation

41
Q

MELAS (mitochondrial encephalopathy-lactic acidosis-stroke-like episodes) features

A

recurrent strokes in the brain
-manifest as migraine-like headaches, vomiting, and seizures
Seizures - tonic-clonic or myoclonic
PEO
General muscle weakness
Exercise intolerance
hearing loss
diabetes
short stature
pancreatitis, ischemic colitis, and intestinal obstruction
numbness, tingling sensation, and pain in extremities
psychiatric disorders
Autism
Hypo or hyperthyroidism
Ataxic gate
kidney damage

42
Q

MELAS (mitochondrial encephalopathy-lactic acidosis-stroke-like episodes) onset

A

childhood to early adulthood

43
Q

MELAS (mitochondrial encephalopathy-lactic acidosis-stroke-like episodes) gene

A

m.3243A<G (80%)

44
Q

MELAS (mitochondrial encephalopathy-lactic acidosis-stroke-like episodes) treatment

A

Arginine
Vasodilation

45
Q

KSS (Kearns-Sayre Syndrome) onset

A

before age 20

46
Q

KSS (Kearns-Sayre Syndrome) features

A

progressive external opthalmoplegia (PEO)
Pigmentary retinopathy
salt-and-pepper pigmentation in retina
Conduction block in heart
Ataxia
Possible ID, delayed sexual maturation, and SS

47
Q

KSS (Kearns-Sayre Syndrome) genetics

A

deletion in mtDNA in 90%
common deletion is m.8470_1344del4977
usually deletions are present in all tissues

48
Q

Pearson Syndrome onset

A

infancy

49
Q

Pearson syndrome features

A

severe anemia
malfunction of the pancreas
those who survive go on to develop KSS

50
Q

Leigh Syndrome onset

A

infancy

51
Q

Leigh Syndrome features

A

brain abnormalities
-result in ataxia, seizures, impaired vision and hearing, DD, and altered control over breathing
muscle weakness
-prominent effects on swallowing, speech, and eye movements
Respiratory failure

52
Q

Leigh Syndrome genetics

A

SURF-1

53
Q

MDS (Mitochondrial DNA Depletion Syndrome) onset

A

infancy

54
Q

MDS (Mitochondrial DNA Depletion Syndrome) features

A

muscle weakness
liver failure
brain abnormalities
floppiness
feeding difficulties
DD
PEO
Seizures

55
Q

MERFF (Myoclonus Epilepsy with Ragged Red Fibers) onset

A

late childhood to adolescence

56
Q

MERFF (Myoclonus Epilepsy with Ragged Red Fibers) features

A

myoclonus (muscle spasms)
seizures
ataxia
muscle weakness
hearing impairment
SS

57
Q

MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) onset

A

before age 20

58
Q

MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) features

A

PEO
Ptosis
Limb weakness
gastrointestinal problems
-chronic diarrhea and abdominal pain
Peripheral neuropathy

59
Q

NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa) onset

A

infancy to adulthood

60
Q

NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa) features

A

neuropathy
Ataxia
Retinitis pigmentosa
DD
Seizures
Dementia

61
Q

Cofactors examples

A

Nicotinamide
Thiamine
Riboflavin
Coenzyme Q10

62
Q

Coenzyme Q10

A

shuttles electrons from Complex I and II to Complex III

63
Q

Carnitine

A

Shuttles fatty acids into mitochondria for oxidation

MedGen (Personal) (12 decks)

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