Table 4.
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).