Nikolenko and colleagues have recently identified eight mutations in the connection domain (E312Q, G335C/D, N348I, A360I/V, V365I, A376S) that increase the resistance to AZT in phenotyping assay [30].
Nine mutations in the connection and 6 mutations in the RNase H were associated with NRTI treatment in subtype B. Some of them lay in or close to amino acid residues which contact nucleic acid or near the RNase H active site.
Five gene mutations were identified and validated by Sanger sequencing, but none of these mutations have been reported in connection with human peripheral T-cell lymphoma (Table 2).
These initial findings will therefore provide invaluable insights for the future in uncovering the genetic and environmental factors that influence the development of familial PD in connection with mutations in mtHsp70 loci, using well-established yeast as a model system.
Moreover, whereas BRCA1/2 neoplasms tend to be ER-, especinlly in connection with P53 mutations, and tend to include an excess of the medullary histological type (Lakhani, 1999; Phillips, 2000), the tumours in these concordant MZ twins were not medullary, and tended to be ER+, without a link to P53 mutations (Table 3, Figure 2).
To date, more than 91 different mutations in the GJB2 gene have been proven in connection with hearing loss (connexin-deafness homepage, which lists, however, only mutations characterized until 2003).
The second study, also presented by Abraham et al. [ 17], concerned a connection between mutation in the glycation site, i.e., a change from the lysine to the threonine residue, and the level of protein glycation after in vitro reaction with 100 mM fructose.
Autosomally-inherited or "familial" AD had been demonstrated only in connection with coding sequence mutations.
Indicated are % methylation within the studied subgroups together with p-values for differences in DNA methylation levels between genes in connection with ER, HER2 and TP53 mutation status.
Additionally, Cane et al. correlated some mutations in the RT connection domain with TAMs, G359S, A360V/T and A371V [31].
