1.6

Mitochondrial DNA-related disorders

Mitochondrial disorders were first genetically characterized by identifying deletions and point mutations within mithochondrial DNA (mtDNA).

Before a cell expresses an abnormal phenotype, the proportion of mtDNA pathogenic variants must exceed a critical threshold level. Additionally, there might also be different tissue segregation patterns of pathogenic mtDNA variants and mtDNA exists in multiple copies per cell. For these reasons, clinical phenotypes of mtDNA disorders are quite different from one patient to another.

Mitochondrial DNA disorders have been classificed in three subgroups, encompassing disorders associated with protein-coding genes, genes encoding mitochondrial tRNAs and rRNAs, and disorders associated with single large-scale mtDNA deletions.

1.6.a

Disorders of mtDNA-encoded oxidative phosphorylation proteins

NADH dehydrogenase core subunit 1 deficiency NADH dehydrogenase core subunit…
1.6.b

Disorders of mtDNA-encoded tRNA and rRNA

Mitochondrial tRNA-Ala deficiency Mitochondrial tRNA-Arg deficiency Mitochondrial tRNA-Asn deficiency Mitochondrial…
1.6.c

Disorders associated with single large-scale mtDNA deletions

Pearson syndrome Kearns-Sayre syndrome mtDNA related-progressive external ophthalmoplegia

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