Abnormal blood lactate accumulation after exercise in patients with multiple mitochondrial DNA deletions and minor muscular symptoms.
OBJECTIVE
Muscle is one of the most commonly affected organs in mitochondrial disorders, and the symptoms are often exercise related. The cardiopulmonary exercise test with the determination of lactic acid formation could give supplementary information about the exercise-induced metabolic stress and compensatory mechanisms used in these disorders. The aim of this study was to evaluate the exercise capacity and lactate kinetics related to exercise in subjects with two genetically characterized mitochondrial disorders (multiple mitochondrial DNA deletions with PEO, MELAS) compared with lactate kinetics in subjects with metabolic myopathy (McArdle's disease) and in the healthy controls.


METHODS
The subjects were consecutive, co-operative patients of Department of Neurology of Helsinki University Hospital. Molecular genetic analyses were used for group classification of the mitochondrial myopathy.


METHODS
The study groups consisted of 11 patients with multiple deletions (PEO) and five patients with a point mutation in the mitochondrial DNA (MELAS), four patients with a muscle phosphorylase enzyme deficiency (McArdle's disease) and 13 healthy controls. The clinical disease of the patients was relatively mild.


RESULTS
A graded exercise test with ventilatory gas analyses and venous blood lactic acid analyses was performed. The main finding was the prolonged accumulation of blood lactate after the exercise in the PEO and MELAS groups compared with the controls. An overcompensation in ventilation was found in the MELAS and PEO group.


CONCLUSIONS
The blood lactate accumulation after exercise occurs in patients with multiple mitochondrial DNA deletions or MELAS even in patients with only mild exercise intolerance. Cardiopulmonary exercise can be used in the diagnostic process of patients with mitochondrial myopathies.
Lindholm
Harri
H
Laboratory Department, Division of Clinical Physiology, Helsinki University Hospital, Helsinki, Finland. harri.lindholm@ttl.fi
Löfberg
Mervi
M
Somer
Hannu
H
Näveri
Hannu
H
Sovijärvi
Anssi
A
D000328:Adult; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D015444:Exercise; D005260:Female; D017353:Gene Deletion; D006012:Glycogen Storage Disease Type V / Q000097:blood / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D019344:Lactic Acid / Q000097:blood*; D017241:MELAS Syndrome / Q000097:blood / Q000235:genetics / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000097:blood / Q000235:genetics / Q000503:physiopathology*; D009886:Ophthalmoplegia / Q000097:blood / Q000235:genetics / Q000503:physiopathology; D017354:Point Mutation
D004272:DNA, Mitochondrial; D019344:Lactic Acid