By Salvatore DiMauro M.D., Valentina Emmanuele M.D. (auth.), Lee-Jun C. Wong (eds.)

Mitochondrial cytopathies are mutations within the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiration chain problems (RCD) are a gaggle of genetically and clinically heterogeneous illnesses, considering the fact that protein elements of the respiration chain are encoded through either mitochondrial and nuclear genomes and are crucial in all cells. furthermore, the biogenesis, constitution and serve as of mitochondria, together with DNA replication, transcription, and translation, all require nuclear encoded genes. considering the fact that mitochondria are found in each cellphone, each tissue, mitochondrial ailment often impacts a number of organs.

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Clin Chim Acta 354(1–2):1–20 12. Galbiati S et al (2006) New mutations in TK2 gene associated with mitochondrial DNA depletion. Pediatr Neurol 34(3):177–185 13. Ghezzi D et al (2009) SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet 41(6):654–656 14. Hoefs SJ et al (2010) Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies. Mol Genet Metab 100(3):251–256 15. Nishino I, Spinazzola A, Hirano M (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

Muscle fibers with normal COX activity appear brown, while negative fibers stain poorly. However, sequential staining with SDH causes the COX deficient fibers to stain dark blue. Immunohistochemical staining uses antibodies against specific protein subunits of the respiratory chain complexes to reveal the defective genes. For example, a muscle biopsy from a patient with Kearns–Sayre syndrome (KSS) may show marked reduction of COXII (mtDNA encoded) but normal COXIV (nDNA encoded) immunohistochemical staining.

If there is an indication of myopathy and/or progressive external ophthalmoplegia, and multiple mtDNA deletions, then the genes responsible for these phenotypes may be sequenced [10, 12, 25, 26, 130]. Oligonucleotide Array Comparative Genomic Hybridization (aCGH) Although sequencing analysis detects point mutations and small insertion/deletions, it does not detect large intragenic or whole gene deletions. 6 kb mitochondrial genome and high-density coverage of nuclear genes involved in mitochondrial biogenesis, structure, and function [120].

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