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Follow-up in carriers of the 'MELAS' mutation without strokes
M S Damian1, A Hertel, P Seibel
1Department of Neurology, University of Giessen, Germany.
Abstract:
Eight carriers of the A3243G mutation of mitochondrial DNA without stroke-like episodes were monitored for up to 7 years in clinical and metabolic studies, by magnetic resonance imaging (MRI) and positron emission tomography (PET). None developed mitochondrial encephalopathy (MELAS), but 2 developed diabetes mellitus, 1 terminal kidney failure and 2 cardiomyopathy. One patient improved markedly under ubiquinone. Electroencephalography showed progressive slowing in 2 cases, but electrophysiological tests and MRI were otherwise noncontributary. PET showed widespread cortical and basal ganglion metabolic deficits in 6 cases. We conclude that internal medical complications are more common than MELAS in adult carriers of the mutation. PET findings, firstly reported in such patients, suggest that chronic subclinical encephalopathy is very frequent, and PET may play a role in monitoring in the future.
Insights
Adults carrying the A3243G mitochondrial DNA mutation rarely develop MELAS. However, they frequently experience other medical issues like diabetes, kidney failure, and cardiomyopathy, with PET scans revealing subclinical brain deficits.
Area of Science:
- Neurology
- Genetics
- Metabolic Disorders
Background:
- The A3243G mutation in mitochondrial DNA is linked to various neurological and metabolic conditions.
- Understanding the long-term clinical manifestations in asymptomatic carriers is crucial for early intervention.
Purpose of the Study:
- To investigate the clinical progression and subclinical changes in adult carriers of the A3243G mitochondrial DNA mutation.
- To assess the utility of advanced imaging techniques like PET in detecting early signs of encephalopathy.
Main Methods:
- Longitudinal clinical monitoring of eight A3243G mutation carriers over seven years.
- Utilized magnetic resonance imaging (MRI) and positron emission tomography (PET) for neuroimaging and metabolic assessment.
- Included electroencephalography (EEG) and other electrophysiological tests.
Main Results:
- No patients developed MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes).
- Two patients developed diabetes mellitus, one terminal kidney failure, and two cardiomyopathy.
- PET scans revealed widespread metabolic deficits in the cortex and basal ganglia in six patients, suggesting subclinical encephalopathy.
Conclusions:
- Internal medical complications are more prevalent than MELAS in adult A3243G mutation carriers.
- Chronic subclinical encephalopathy is common, as indicated by PET findings.
- PET imaging may serve as a valuable tool for monitoring disease progression in these individuals.