Transferrin receptor 2 (TfR2) and HFE mutational analysis in non‐C282Y iron overload: identification of a novel TfR2 mutation

Blood. 2002 Aug 1;100(3):1075-7. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, Butterfield Y, Rodrigues P, Jones S, Porto G, Marra M, De Sousa M, Vatcher G. SourceGenes, Elements, and Metabolism Program, Children and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada. Abstract Hereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282Y) mutation of the HFE gene. Non-C282Y HH is a heterogeneous group accounting for 15% of HH in Northern Europe. Pathogenic mutations of the transferrin receptor 2 (TfR2) gene have been identified in 4 Italian pedigrees with the latter syndrome. The goal of this study was to perform a mutational analysis of the TfR2 and HFE genes in a cohort of non-C282Y iron overload patients of mixed ethnic backgrounds. Several sequence variants were identified within the TfR2 gene, including a homozygous missense change in exon 17, c2069 A-->C, which changes a glutamine to a proline residue at position 690. This putative mutation was found in a severely affected Portuguese man and 2 family members with the same genotype. In summary, pathologic TfR2 mutations are present outside of Italy, accounting for a small proportion of non-C282Y HH

A Novel Assessment Technique Does Not Produce More Reliable Estimates of Maximal Neuromuscular Strength

Accurate determinations of individuals' one-repetition maximum (1RM) are critical when evaluating the effectiveness of an exercise intervention involving progressive resistance training (RT). Traditional ("bottom-up"; BT) testing methods involve progressions from low to maximal loads and are commonly used in clinical and laboratory environments. Concerns about the reliability of BT testing in certain populations suggest a different technique may be more effective. Purpose: To compare the reliability and effectiveness of traditional 1RM testing to a novel technique (TDT) involving progressive load reductions and a starting intensity equal to 130% of exercisers' estimated 1RM. Method: 70 healthy adults (age = 45.03 ± 25.64 y) with diverse RT experience were randomized into a reliability testing trial (RTT; n = 33) or an optimal method trial (OMT; n = 37). Subjects in the RTT performed either TDT or BT on 3 occasions separated by ≥ 72 hours, while subjects in the OMT performed each method once in random order on separate days. Results: No significant differences in percent coefficient of variation were observed between BT and TDT for either exercise used in the study (pneumatic seated chest press: Hedge's g = 0.25, p = .49; pneumatic recumbent leg press: Hedge's g = 0.12, p = .74). TDT was not found to produce significantly higher 1RM values than BT in any group. Conclusion: TDT does not appear to facilitate more reliable 1RM estimates than BT. Further research is needed to determine the stability of these findings across levels of exercisers' age, sex, and previous RT experience