MITOCHONDRIAL

MYOPATHY

Sara Burgos Salvador

19.12.14
1HA
INS La Guineueta

1. Etiology
There are alterations in sequences of

mitochondrial DNA
Inheritance:

Locus:

Maternal
recessive
v

DNA.

nuclear DNA
Autosomal

2. Metabolic route affected

It affectes in the oxidative
phosphorylation.
Certainly, the most
common issues are in the
complex I and IV.
Complex 1 error: death in
a few days -> 40mg
riboflavina/day.
Complex 4 error:

3. Signs and symptoms

Fatigability

Retinitis pigmentosa

Deterioration of mental
functions

Liver and pancreatic

failure

Stroke

Sideroblastic anemia

Metabolic acidosis

Intestinal pseudoobstruction

Hearing loss

Motor disturbances

Exercise intolerance

Blindness

4. Clinic

Determination of serum lactic acid

> 2,5mM
Relation lactate / pyruvate
> 20
Stress testing
Resonance spectroscopy with phosphorous
Muscle biopsy
ragged red fibers
increase amount of lipids
Bioquemical study of the respiratory chain
Molecular analyzes for mtDNA mutations
in situ hybridization techniques

5. Palliative treatment
There is NO definative therapy.
However, there are some supportive methods to
improve the quality of life of patients.
Improved nutrition
Cardiac pacemarker implantation
Surgical correction
Exercise program
Metabolic treatment includes the use of products
such as: creatine, coenzyme Q, succinate,
riboflavin, nicotinamide, vitamin E, ascorbic
acid, thiamine and L-carnitine.

6. Question

7. Answer

A.
B.
C.
D.
E.