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Mitochondrial disease in childhood: nuclear encoded
Amy C Goldstein1, Poonam Bhatia, Jodie M Vento
1Division of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. amy.goldstein@chp.edu
Summary
Primary mitochondrial disorders stem from genetic mutations affecting cellular energy production. Childhood cases often involve nuclear DNA mutations, presenting acutely with diverse organ involvement.
Area of Science:
- Biochemistry
- Genetics
- Cell Biology
Background:
- Primary mitochondrial disorders are genetically diverse conditions impacting cellular energy production.
- These disorders arise from alterations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA).
- They impair oxidative phosphorylation, leading to adenosine triphosphate (ATP) deficiency and energy failure.
Purpose of the Study:
- To highlight the distinct presentation of primary mitochondrial diseases in children.
- To emphasize the role of nuclear DNA mutations in pediatric mitochondrial disorders.
- To advocate for a classification system for nuclear genes involved in mitochondrial function.
Main Methods:
- Review of clinical and genetic characteristics of primary mitochondrial disorders.
- Analysis of age-related differences in disease presentation and genetic etiology.
- Discussion of the functional and locational classification of nuclear genes.
Main Results:
- Mitochondrial disorders exhibit significant clinical and genetic heterogeneity.
- Children typically present with acute onset, often linked to nDNA mutations.
- Adults more frequently show subacute or progressive disease, with mtDNA mutations being more prominent.
Conclusions:
- Pediatric primary mitochondrial diseases are predominantly caused by nDNA mutations.
- Understanding the genetic basis and classification of nuclear genes is crucial for clinicians.
- Recognizing the unique pediatric presentation aids in timely diagnosis and management.
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