Disease relevance of MT-TA

• We have previously described a patient with CADASIL caused by a R133C mutation in the NOTCH3 gene and with a concomitant myopathy caused by a 5650G>A mutation in the MTTA gene in mitochondrial DNA (mtDNA) [1].
• The clinical usefulness of the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide (MTT) chemosensitivity test (MTT assay; MTTA) in the selection of anticancer drugs against advanced gastric cancer (AGC) was evaluated [2].

High impact information on MT-TA

• The chromosome 1p breakpoint was localized within a repetitive region encoding t-RNA genes, with 12A-2 (PND) as most distal and pHE2.6 (A12M2) as most proximal single-copy breakpoint flanking markers [3].
• Here, we report on the identification of three clusters of DNA polymorphisms, one in each of the constant regions of the human T cell receptor alpha and beta gene complexes on human chromosomes 14 and 7, respectively, and a third among the human t-RNA genes on human chromosome 14 [4].
• Other enzyme sites which were affected by (4) marginally were t-RNA and r-RNA polymerases, dihydrofolate reductase, aspartate transcarboxylase, and nucleoside kinases. d(NTP) pools of L1210 cells were reduced after 60 min [5].

Analytical, diagnostic and therapeutic context of MT-TA

• In conclusion, MTTA results predicted patient prognoses, based on the selection of appropriate chemotherapy [2].

References