Mitochondrial Myopathies Flashcards

1
Q

Leber’s hereditary optic neuropathy

A

Single base change
Complex I
Mitochondria partially defective in electron transport from NADH to ubiquinone
Causes blindness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Myoclonus epilepsy with ragged red fibres

A

Point mutation
tRNA (lysine)
Disrupts synthesis of proteins essential for OXPHOS
Skeletal muscle fibres have abnormally shaped mitochondria - clump together

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Mitochondrial encephalomyopathy

A

Affects brain and skeletal muscle

Symptoms present in childhood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Kearns-Sayre Syndrome

A

5kb deletion
Onset before age 20
Dementia and retinitis pigmentosa

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Diagnosis

A

Biochemical tests
Histology
Genetic Testing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Treatment

A

Occupational/physical therapy
Vitamin therapies
No specific treatment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Prevention

A

IVF strategy to replace defective mitochondria
Merge DNA from 2 eggs - one from mother one from healthy donor with functioning mitochondria
Mitochondria Gene Replacement (pronuclear stage)
Maternal Spindle Transfer (alternative)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly