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The article discusses the study by Wein, N. and colleagues to demonstrate that initiation of Duchenne muscular dystrophy (DMD) exon 6 translation is driven by an internal ribosome entry site (IRES) in exon 5 nucleic acid sequence and this allows translation of truncated form of dystrophin protein. It states that mass spectrometry on muscle biopsy tissue of an asymptomatic individual was carried out and a form of dystrophin was detected and therapeutic use of IRES modulation was established.

Aim: To investigate whether in-the-moment diary reports of daily experience, taken collectively, are a valid representation of health-related quality of life (HRQL).Methods: A total of 35 boys with Duchenne muscular dystrophy (DMD) were recruited through four neuromuscular care providers across Australia. Participants completed the PedsQL™ Generic Core scales and one week of experience-sampling diary reporting on a personal digital assistant. Rasch analysis was undertaken on the diary data to derive a single valid measure score. The resulting measure score for each participant was correlated with the summary score from the PedsQL™ Generic Core scales to examine whether daily experience was representative of HRQL.Results: The daily diary method showed good metric properties, with adequate goodness of fit for data from items and participants suggesting unidimensionality of the construct: quality of everyday experience. The correlation of the daily diary measure score with overall PedsQL™ summary score showed moderate agreement (r = .60, p = 0.001).Conclusions: The benefits of measuring daily quality of life include detailed descriptions of day-to-day experiences of children without the need for retrospective recall. Diary methods on an electronic platform or software application for personal devices may be a useful tool to understand HRQL as the repeated measures data provide a detailed experience directly from the child and the platform makes data completion highly motivating. [ABSTRACT FROM AUTHOR]

Transmembrane water transport is mediated by aquaporins (AQPs), of which AQP1 and AQP4 are expressed in skeletal muscle. AQP4 expression is reduced in Duchenne muscular dystrophy (DMD) patients, and is reported to correlate with decreased α1-syntrophin and altered osmotic permeability. In this study, we assessed the relationship between AQP1, AQP4, dystrophin and α1-syntrophin in dystrophinopathy and dysferlinopathy patients. Muscle biopsies of patients with DMD ( n = 8) and limb–girdle muscular dystrophy type 2B (LGMD2B; n = 5) were screened for AQP1 and AQP4 expression by real-time quantitative RT-PCR or Western blot and immunohistochemistry. AQP expression was further analyzed in primary myotubes derived from DMD and LGMD2B patients by cell culture and immunohistochemistry. AQP1 transcript and protein expression was significantly elevated in DMD biopsies, and was localized to the sarcolemma of muscle fibers and endothelia of muscle capillaries. AQP4 was significantly reduced despite normal dystrophin and α1-syntrophin in dysferlinopathy patients, while expression of AQP1 was variably upregulated. Expression of AQP1 and AQP4 was normal in patient-derived primary myotubes, suggesting that altered AQPs observed in biopsies are likely secondary to the dystrophic process. Our study shows that AQP4 downregulation can occur in muscular dystrophies with either normal or disrupted expression of dystrophin-associated proteins, and that this might be associated with upregulation of AQP1. [ABSTRACT FROM AUTHOR]