Table 1.
Mitochondrial dysfunction and role of various mitochondrial ultra-structural dysfunctional frameworks, pro-inflammation, mutations and inefficiencies of enzymes in disease progression.
| Mitochondrial Dysfunction |
Type of Study
(No. of Cases (n)) |
References |
|---|---|---|
| Mitochondrial metabolites were significantly altered in ASD patients compared to healthy patients | Clinical (11) | [142] |
| Hyperlactacidemia | Preclinical | [174] |
| Significant reduction in levels of N-acetyl-aspartate1 (NAA) in diseased individuals compared to healthy individuals | Clinical (45) | [16] |
| Increased production of free radicals in mitochondria, increased lipid peroxidation, and depletion of reserve capacity of mitochondria | Preclinical | [170] |
| Over-expression of ETC complex IV proteins, which causes oxidative damage to mitochondrial micro-framework | Clinical (6) | [162] |
| Increased production of pro-inflammatory markers, like TNF-α, IL-1 and IL-1β | Preclinical | [125] |
| Deletion of mitochondrial genomic DNA at particular points | Clinical (10) | [178] |
| Increased incidences of mitochondrial genomic mutations triggered by oxidative imbalance | Preclinical | [170] |
| Significant reduction of ETC activity in the cerebellum of ASD patients | Clinical (8) | [107] |
| Increased levels of cyclic dipeptides (proline–phenylalanine), which triggers apoptosis. | Preclinical | [181] |
| Significant reduction in gene expression of ETC genes in the anterior cingulate gyrus | Clinical (10) | [171] |
| Increased levels of cathepsins, which cause increased expression of pro-inflammatory markers | Preclinical | [187] |
| Significant reduction in aconitase-5 activity | Clinical (15) | [175] |
| Variation in copy number of the mitochondrial genome | Preclinical | [193] |
| Significant reduction in expression of genes involved in synaptic structure and functioning | Clinical 69 | [163] |
| Altered aspartate/glutamate carrier levels in patients with ASD | Preclinical | [192] |
| Significantly increased levels of phosphocreatine levels in ASD patients compared to control patients | Clinical (17) | [177] |
| Significant reduction in the efficacy of respiratory chain complex in ASD patients compared to healthy patients | Clinical (92) | [134] |
| Mitochondrial energy inefficiency | Clinical (67) | [178] |