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. 2022 Apr 25;18(1):94–101. doi: 10.4103/1673-5374.343884

Table 4.

Indication for the participation of mitochondrial DNA damage in neurological disorders

Disease Pathogenesis Genetic factors
Alzheimer’s disease Aβ plaques, neurofibrilary tangles APP, Tau, PS1, PS2, APOE4, TOMM40 gene, MAPT
Parkinson’s disease α-Synuclein Parkin, LRRK2, DJ-1, α-synuclein, PINK1
Huntington’s disease N-terminal polyglutamine Htt, Drp1, p53, HTRA2,
Myoclonic epilepsy and ragged red fibers 8344 A->G MT-TK
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes A-to-G transition at nucleotide (m.3243A>G). tRNALeu(UUA/UUG) are causative in nature. MT-TL1

APOE: Apolipoprotein E; APP: amyloid precursor protein; Aβ: amyloid beta; DJ1: protein deglycase DJ-1/Parkinson disease protein 7; DRP1: dynamin-related protein 1; HTRA2: HtrA serine peptidase 2; Htt: Huntingtin; LRRK2: leucine rich repeat kinase 2; MAPT: microtubule associated protein tau; MT-TK: mitochondrially encoded TRNA-Lys (AAA/G); MT-TL1: mitochondrially encoded TRNA-Leu (UUA/G) 1); PINK1: PTEN-induced kinase 1; PS1 and 2: presenelin 1 and 2; TOMM40: translocase of outer mitochondrial membrane 40. Information in Table 4 is a summary of a study from Norat et al. (2020).