Jornal da doença de Alzheimer e parkinsonismo

Abstrato

Mitochondrial DNA Haplogroups in Patients with Alzheimer Probable in Guadalajara, Mexico

Genaro Gabriel Ortiz, Verónica Loera-Castañeda, Lucila Sandoval-Ramírez, Miguel Ángel Macías-Islas, Gracia Viviana González- Enríquez, Luis J. Flores-Alvarado, Irma E. Velázquez-Brizuela, Alfredo Celis de la Rosa and Fermín P. Pacheco-Moisés

Background and aims . It has been suggested that mitochondrial dysfunction is relevant to Alzheimer disease (AD) and some mitochondrial haplogroups could be related to the risk of AD. Therefore, in this work we have genotyped mtDNA haplogroups in Mexican patients with AD and their respective matched controls. Methods: Haplotyping of 33 AD patients and 49 healthy control subjects was performed using polymerase chain reaction/digest identification of key polymorphic sites in the mitochondrial genome. Results: Mitochondrial haplogroup A is the most frequent in AD patients and controls followed by haplogroup B. The haplogroup C was the least frequent in the control group and it was absent in the AD group. The frequency of haplogroup D was significantly higher in the AD group than in the control group (p = 0.03). Conclusion: There is clear association between the frequency of haplogroup D and Alzheimer disease in the analyzed population from Guadalajara, Mexico. Interestingly the haplogroup C was absent in the AD group. These data requires further study in a larger population to identify these differences more clearly.