Review Article

May “Mitochondrial Eve” and Mitochondrial Haplogroups Play a Role in Neurodegeneration and Alzheimer's Disease?

Table 1

A complete list of published researches focusing on mtDNA haplogroups and neurodegenerative diseases.

ReferenceNumber of patientsNumber of controlsHaplogroups that increase riskHaplogroups that reduce riskSample’s region of origin

Parkinson’s diseaseVan der Walt et al. [40]609340NoneJ in females, K in individuals older than 70 yearsEurope
Autere et al. [42]238183supercluster JTIWX increase risk both in Parkinson disease and in Parkinson with dementiaNoneFinland
Pyle et al. [41]455447Nonecluster UKJTUnited Kingdom
Ghezzi et al. [43]6201486NoneKItaly
Latsoudis et al. [44]224383Nonetrend for haplogroups J, T, U and I and the supercluster of haplogroups UKJT to be slightly underrepresented in PD patientsCrete
Takasaki, [79]9696M7b2, B4e, and B5bNoneJapan
Simon et al. [45]168 families895NoneNoneUSA (non Hispanic Caucasian)

Amyotrophic lateral sclerosisMancuso et al. [46]222151NoneIItaly
Chinnery et al. [47]504493NoneNoneUnited Kingdom

Friedreich’s ataxiaGiacchetti et al. [48]9948NoneNo. However, patients with haplogroup U have a delay of 5 years in the disease onset and a lower rate of cardiomyopathyItaly

Huntington’s diseaseMancuso et al. [49]51181NoneNoneItaly
Arning et al. [50]40448haplogroup H associated with a lower age of onsetNoneGermany

Multiple sclerosisKalman et al. [51]7784K and JNoneCaucasian
Otaegui et al. [52]unknownunknownunknowntrend for haplogroups JT to be slightly underrepresented in PD patients with multiple sclerosis and multiple sclerosis with optic neuritisBasque country
Yu et al. [53]>2500>2500J, 13708A variantNoneEurope (Norway, Spain, Germany, Sardinia, Finland)
Ban et al. [54]9941506trend for haplogroup U to be overrepresented in patients with multiple sclerosisNoneUnited Kingdom
Ghabaee et al. [55]52NoneHaplogroup A associated with lower age of onset and haplogroup H associated with optic nerve involvementNoneIran

Alzheimer’s diseaseChagnon et al. [74]6983JTQuebec, Canada
Carrieri et al. [77]213179 age-matched and 210 individuals aged more than 100 yearsNoneK and U seem to neutralize the risk effect of the APOE ε4 alleleItaly
Van der Walt et al. [75]989328U in malesU in femalesEurope
Pyle et al. [41]185447NoneNoneUnited Kingdom
Elson et al. [78]145128NoneNoneUnited Kingdom and United States (European descent)
Mancuso et al. [56]209191NoneNoneItaly
Fesahat et al. [76]30100H and UNoneIran
Takasaki, [79]9696G2a, B4c1 and N9b1NoneJapan
Maruszak et al. [80]222252HVNonePoland
Tanaka et al. [84]153129np956-965 poly-c insertion and 856A>G variantNoneJapan
Santoro et al. [81]936776H5, especially in subjects younger than 75 years oldNoneItaly