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2. Genetics > Mitochondrial > Flashcards

Mitochondrial Flashcards

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1
Q

[Gen/Mito/Basic]

How many mitochondrial genes?

A

37

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2
Q

[Gen/Mito/Basic]

How many copies of mtDNA in each mitochondria?

A

2-10

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3
Q

[Gen/Mito/Basic]

Examples of mitochondrial disorders? (5)

A
  1. MERRF Myoclonic epilepsy and ragged-red fibers
  2. MELAS Mitochondrial encephalopathy lactic acidosis and stroke like episodes
  3. Leigh syndrome
  4. Kearns-Sayre syndrome
  5. Pearson syndrome
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4
Q

[Gen/Mito/MERRF]

MERRF stands for?

A

Myoclonic epilepsy and ragged-red fibers

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5
Q

[Gen/Mito/MELAS]

MELAS stands for?

A

Mitochondrial
encephalopathy,
lactic acidosis, and
stroke-like episodes

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6
Q

[Gen/Mito/MERRF]

Symptoms of MERRF (Myoclonic epilepsy and ragged-red fibers? (4)

A
  1. Progressive myoclonic epilepsy
  2. Myopathy
  3. Hearing loss
  4. Dementia
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7
Q

[Gen/Mito/MELAS]

Symptoms of MELAS (Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes)? (4)

A
  1. Recurrent episodes of encephalopathy
  2. Myopathy
  3. Stroke of the young; present with migraine like Headache, Focal neurological deficits
  4. Diabetes mellitus of the young
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8
Q

[Gen/Mito/Leigh]

Symptoms of Leigh syndrome (Subacute necrotizing encephalopathy) (3)

A
  1. Eye: Optic atrophy, retinitis pigmentosa
  2. Basal ganglia defects - difficulty stopping, starting movement, Hypotonia
  3. Biochemical: Lactic acidosis, hypoglycemia, 3-methylglutaconyl acidemia
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9
Q

[Gen/Mito/KSS]

Symptoms of Kearns-Sayre syndrome? (4)
- Onset
- 3 system

A
  1. Onset before 20 years old
  2. Progressive external ophthalmoplegia (PEO), Retinitis pigmentosa, ptosis
  3. Cardiac conduction defects
  4. Myopathy (ragged red fiber)
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10
Q

[Gen/Mito/Pearson]

Symptoms of Pearson syndrome? (4)
- 3 organ systems
- progress

A
  1. Pancreatic dysfunction
  2. Myopathy
  3. Sideroblastic anemia, Neutropenia
  4. Evolution to Kearns-Sayre syndrome
    (Pearson, pancreatitis, pancytopenia, 3Ps)
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11
Q

[Gen/Mito/Basic]

Three classic phenotypes of mtDNA deletion syndromes?

A

Kearns-Sayre syndrome
Pearson syndrome
Progressive external ophthalmoplegia (PEO)

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12
Q

[Gen/Mito/PEO]

Clinical symptoms of Progressive external ophthalmoplegia (PEO)? (3)

A

Ptosis, impaired eye movements (ophthalmoplegia)
Oropharyngeal weakness
Variable proximal limb weakness with exercise intolerance

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2. Genetics (19 decks)

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