A previous study of European Caucasian patients with sporadic amyotrophic lateral sclerosis demonstrated that a polymorphism in the microtubule-associated protein Tau (MAPT) gene was significantly associated with sporadic amyotrophic lateral sclerosis pathogenesis. To examine this in a different population, Daojun Hong and colleagues from Nanchang University further investigated the association of the MAPT gene with sporadic amyotrophic lateral sclerosis in the Chinese Han population. Researchers detected two genetic variations in MAPT (105788 A > G in intron 9 and 123972 T > A in intron 11) in sporadic amyotrophic lateral sclerosis patients but not controls. Moreover, the patients with a genetic variation were more prone to bulbar palsy and breathing difficulties than those with the wild-type genotype. Their study, published in the Neural Regeneration Research (Vol. 8, No. 33, 2013), suggests that the MAPT gene is a potential risk gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population.

These are chromatograms showing the T > A variant at position 123972 in intron 11 of the MAPT gene. (A) TT genotype; (B) TA genotype. The position of the variant is indicated by arrows.

(Photo Credit: Neural Regeneration Research)