Mitochondrial Flashcards

1
Q

Traits that should trigger screening for mitochondrial disease

A

Hearing loss in 30s + diabetes, chronic progressive external ophthalmoplegia

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2
Q

Stroke-like episodes. Can include deafness, DM, pigmentary retinopathy, cardiomyopathy, ataxia, seizures, lactic acidosis, myopathy.

A

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): 24 variants in MT-TL1 (e.g. m.3243A>G), other mtDNA variants as well

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3
Q

Progressive myoclonic epilepsy, ataxia, weakness, lipomas around neck, hyperlipidemia w/o CV risk, WPW syndrome, hearing loss, lactic acidosis, retinopathy.

A

Myoclonic epilepsy with ragged red fibers (MERRF): m.8344A>G in MT-TK and other mtDNA variants as well.

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4
Q

Childhood onset but often quiescent until adulthood: sensorimotor neuropathy, ataxia, retinopathy. + Sz, ID/demential, proximal weakness, hearing loss, conduction defects.

A

Neurogenic muscle weakness, ataxia, and Retinitis Pigmentosa (NARP): m.8993T>G in MT-ATP6, a few other variants. Continuum with Leigh syndrome.

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5
Q

m3243 differential diagnosis

A

MELAS, MERRF, maternally inherited diabetes and deafness (MIDD), enteropathy, HCM, cluster headaches; highly variable

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6
Q

Infant/child with episodes of developmental regression followed by partial recovery, hypotonia/dystonia, dysphagia, epilepsy, FTT.

A

Leigh syndrome: >75 genes, nDNA and mtDNA

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7
Q

Child w/intractable epilepsy, loss of milestones, liver disease.

A

Alpers-Huttenlocher syndrome; most in POLG. Several other diseases in spectrum a/w neuropathy, movement disorders, epilepsy.

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8
Q

Congenital cataracts, HCM, exercise intolerance/myopathy, lactic acidosis.

A

Sengers syndrome: AGK (nuclear)

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9
Q

Hearing loss, encephalopathy, FTT< hypotonia, DD, spasticity, hypoglycemia, hepatopathy, lactic acidosis

A

MEGDEL syndrome (3-methylglutaconic acuduria w/deafness, encephalopathy, and Leigh-like syndrome): SERAC1 (nuclear)

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10
Q

Child w/sideroblastic anemia, pancreatic dysfunction (exocrine and/or endocrine) pancytopenia, renal tubulopathy.

A

Pearson syndrome: large deletions or rearrangements of mtDNA

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11
Q

Child w/progressive neuromuscular weakness & lactic acidosis, often fatal.

A

Congenital lactic acidosis: nuclear or mitochondrial missense variants

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12
Q

Adult w/subacute painless bilateral vision loss.

A

Leber hereditary optic neuropathy, LHON: several mtDNA variants incl m.11778G>A, m.14484T>C, m.3460G>A

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13
Q

Pigmentary retinopathy w/progressive vision loss, ataxia, cardiac conduction abnormalities, DM, deafness, bulbar weakness, dementia.

A

Kearns-Sayre syndrome (KSS): large mtDNA deletion

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14
Q

Chronic progressive external ophthalmoplegia in older adults

A

C10orf2 (Twinkle) if isolated, MANY other genes associated with a variety of other symptoms

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15
Q

Gastrointestinal dysmotility, muscle weakness/atrophy, ophthalmoplegia, neuropathy, retinopathy, hearing loss

A

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome: TYMP, RRM2B, and POLG variants

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16
Q

Drugs to avoid w/mitochondrial disease

A

Valproic acid, ahminoglycosides

17
Q

Use of ketogenic diet in mitochondrial diseases w/epilepsy

A

Only for pyruvate dehydrogenase deficiency, otherwise worsens neuropathy