Functional diagnostics in mitochondrial diseases.

Molecular diagnostics of mitochondrial disorders.

The mitochondrial respiratory chain (RC) results from the expression of both mitochondrial and nuclear genes. The number of disease-causing mutations in nuclear genes is steadily growing and mitochondrial DNA (mtDNA) deletions and mutations account for no more than 15-20% of pediatric patients. Unfortunately, the disease-causing mutations have been identified for only a small number of patients...

Clinical relevance of the defects of mitochondrial genome and nuclear genes underlying mitochondrial diseases: from epidemiology through diagnostics to pharmacogenomics Ph.D. theses

A Review of Mitochondrial Biogenesis and Cellular Response

Abstract Background and Objectives Mitochondrial biogenesis is a complex process involving the coordinated expression of mitochondrial and nuclear genes, the import of the products of the latter into the organelle and turnover of this process. Mitochondrial malfunction or defects in any of the many pathways involved in mitochondrial biogenesis can lead to degenerative diseases and possibly pla...

Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry

BACKGROUND Mitochondrial diseases belong to the most severe inherited metabolic disorders affecting pediatric population. Despite detailed knowledge of mtDNA mutations and progress in identification of affected nuclear genes, diagnostics of a substantial part of mitochondrial diseases relies on clinical symptoms and biochemical data from muscle biopsies and cultured fibroblasts. METHODS To in...

Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations.

Mutations in the mitochondrial DNA (mtDNA) are now recognized as major contributors to human pathologies and possibly to normal aging. A large number of rearrangements and point mutations in protein coding and tRNA genes have been identified in patients with mitochondrial disorders. In this review, we discuss genotype-phenotype correlations in mitochondrial diseases and common techniques used t...