Mitochondrial DNA A4336G mutation in Alzheimer's and Parkinson's diseases.
OBJECTIVE
To determine whether the mitochondrial DNA (mtDNA) A4336G mutation represents a risk factor for Spanish patients with both Alzheimer's disease (AD) and Parkinson's disease (PD).


METHODS
One hundred and sixty-one AD and 106 PD unrelated patients were included in the study. Seventy-eight age-matched and 144 randomly chosen healthy subjects served as controls. The frequency of the A4336G mutation in these groups was compared using the chi(2) and Fisher's exact tests. p < 0.05 was established as a statistically significant differential value.


RESULTS
The mtDNA A4336G mutation was present in 1/161 of AD patients (0.6%), in 3/106 of PD patients (2.8%), in 1/78 of age-matched controls (1.3%) and in 2/144 of the randomly chosen controls (1.4%). These differences were not statistically significant.


CONCLUSIONS
Our results do not support the hypothesis that this mutation represents a risk factor for either AD or PD patients, at least in the case of this Spanish sample.
Servicio de Inmunología, Hospital Universitario Virgen del Rocío, Servicio Andaluz de Salud, Sevilla, España. rglozano@hvr.junta-andalucia.es
José Raúl
JR
García-Lozano
Pablo
P
Mir
Román
R
Alberca
Isabel
I
Aguilera
Eulogio
E
Gil Néciga
Olga
O
Fernández-López
Aurelio
A
Cayuela
Antonio
A
Núñez-Roldan
D000368:Aged; D000409:Alanine / Q000235:genetics; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000737:chemistry; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012307:Risk Factors; D013030:Spain / Q000453:epidemiology
D004272:DNA, Mitochondrial; D000409:Alanine; D005998:Glycine