Table 1 Major neurodegenerative disorders related to mtDNA mutation

From: The role of mitochondrial DNA mutation on neurodegenerative diseases

Disease

Major effective molecule

Function

References

Alzheimer’s disease

β-Amyloid

Defecting BER pathways. Altering calcium homeostasis.

Cha et al.49

Reddy et al.50

Canugovi et al.51

Krishnan et al.52

Parkinson’s disease

Parkin

Resulting in a defective assembly of the OXPHOS complex.

Winklhofer et al.53

Jin et al.54

Sterky et al.55

Liu et al.56

Tufi et al.57

Amyotrophic lateral sclerosis

SOD1

Binds to VDAC1. Increasing oxidative damage to mtDNA.

Murakami et al.60

Israelson et al.61

Dhaliwal et al.62

Warita et al.63

Kikuchi et al.64

Huntington’s disease

Huntingtin

Reducing respiratory chain complex function. Generating ROS.

Ayala et al.65

Oliveira et al.66

Siddiqui et al.67

Wang et al.68

  1. Abbreviations: BER, base excision repair; mtDNA, mitochondrial DNA; OXPHOS, oxidative phosphorylation; ROS, reactive oxygen species; VDAC1, voltage-dependent anion-selective channel protein 1.