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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
Electron transport chain is controlled by both
mtDNA and nDNA nDNA - 850 genes mtDNA - 13 genes
26
nDNA for electron transport chain is
AR
27
mtDNa is
maternal Circular
28
Only how many genes are designated for making ATP
100 out of 3000
29
Heteroplasmy
presence of a mixture of mutant and normal mtDNA
30
Threshold effect
vulnerability of each tissue to impaired oxidative metabolism
31
Mitochondrial disease incidence
1:4000 by age 10
32
mitochondrial encephalomyopathy
mito problems in muscular and neurological
33
Neurologic red flags for mitochondrial disease
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
Cardio red flags for mitochondrial disease
Hypertrophic cardiomyopathy with rhythm disturbance unexplained heart block in child cardiomyopathy with lactic acidosis dilated cardiomyopathy with muscle weakness Wolff-Parkinson-White arrhythmia
35
Ophthalmologic red flags for mitochondrial disease
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
Gastroenterologic red flags for mitochondrial disease
unexplained or valproate-induced liver failure severe dysmotility pseudo-obstructive episodes
37
Other red flags for mitochondrial disease
newborn with hypotonia, weakness, FTT, and metabolic acidosis (specificially lactic acidosis) Exercise intolerance Hypersensitivity to general anesthesia Episodes of acute rhabdomyolysis
38
Myopathy
muscle weakness and wasting, and exercise intolerance Weakness and wasting in face and neck muscles -slurred speech -difficulty swallowing
39
Encephalomyopathy features
hearing impairment, migraine-like headaches and seizures headaches and seizures accompanied by stroke
40
Diagnostic evaluation of mitochondrial disease
lactic acidosis (not sensitive or specific) Pathogenic mtDNA or nDNA mutation
41
MELAS (mitochondrial encephalopathy-lactic acidosis-stroke-like episodes) features
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
MELAS (mitochondrial encephalopathy-lactic acidosis-stroke-like episodes) onset
childhood to early adulthood
43
MELAS (mitochondrial encephalopathy-lactic acidosis-stroke-like episodes) gene
m.3243A
44
MELAS (mitochondrial encephalopathy-lactic acidosis-stroke-like episodes) treatment
Arginine Vasodilation
45
KSS (Kearns-Sayre Syndrome) onset
before age 20
46
KSS (Kearns-Sayre Syndrome) features
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
KSS (Kearns-Sayre Syndrome) genetics
deletion in mtDNA in 90% common deletion is m.8470_1344del4977 usually deletions are present in all tissues
48
Pearson Syndrome onset
infancy
49
Pearson syndrome features
severe anemia malfunction of the pancreas those who survive go on to develop KSS
50
Leigh Syndrome onset
infancy
51
Leigh Syndrome features
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
Leigh Syndrome genetics
SURF-1
53
MDS (Mitochondrial DNA Depletion Syndrome) onset
infancy
54
MDS (Mitochondrial DNA Depletion Syndrome) features
muscle weakness liver failure brain abnormalities floppiness feeding difficulties DD PEO Seizures
55
MERFF (Myoclonus Epilepsy with Ragged Red Fibers) onset
late childhood to adolescence
56
MERFF (Myoclonus Epilepsy with Ragged Red Fibers) features
myoclonus (muscle spasms) seizures ataxia muscle weakness hearing impairment SS
57
MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) onset
before age 20
58
MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) features
PEO Ptosis Limb weakness gastrointestinal problems -chronic diarrhea and abdominal pain Peripheral neuropathy
59
NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa) onset
infancy to adulthood
60
NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa) features
neuropathy Ataxia Retinitis pigmentosa DD Seizures Dementia
61
Cofactors examples
Nicotinamide Thiamine Riboflavin Coenzyme Q10
62
Coenzyme Q10
shuttles electrons from Complex I and II to Complex III
63
Carnitine
Shuttles fatty acids into mitochondria for oxidation

MedGen (Personal) (12 decks)

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