Genes and the ageing muscle: a review on genetic association studies

Western populations are living longer. Ageing decline in muscle mass and strength (i.e. sarcopenia) is becoming a growing public health problem, as it contributes to the decreased capacity for independent living. It is thus important to determine those genetic factors that interact with ageing and thus modulate functional capacity and skeletal muscle phenotypes in older people. It would be also clinically relevant to identify 'unfavourable' genotypes associated with accelerated sarcopenia. In this review, we summarized published information on the potential associations between some genetic polymorphisms and muscle phenotypes in older people. A special emphasis was placed on those candidate polymorphisms that have been more extensively studied, i.e. angiotensin-converting enzyme (ACE) gene I/D, α-actinin-3 (ACTN3) R577X, and myostatin (MSTN) K153R, among others. Although previous heritability studies have indicated that there is an important genetic contribution to individual variability in muscle phenotypes among old people, published data on specific gene variants are controversial. The ACTN3 R577X polymorphism could influence muscle function in old women, yet there is controversy with regards to which allele (R or X) might play a 'favourable' role. Though more research is needed, up-to-date MSTN genotype is possibly the strongest candidate to explain variance among muscle phenotypes in the elderly. Future studies should take into account the association between muscle phenotypes in this population and complex gene-gene and gene-environment interactions.

Muscle function and body composition profile in adolescents withrestrictive anorexia nervosa: Does resistance training help?

The aim of this study was to analyze the effects of short-term resistance training on the body composition profile and muscle function in a group of Anorexia Nervosa restricting type (AN-R) patients. The sample consisted of AN-R female adolescents (12.8 ± 0.6 years) allocated into the control and intervention groups (n¼18 each). Body composition and relative strength were assessed at baseline, after 8 weeks and 4 weeks following the intervention. Body mass index (BMI) increased throughout the study (p = 0.011). Significant skeletal muscle mass (SMM) gains were found in the intervention group (p = 0.045, d = 0.6) that correlated to the change in BMI (r = 0.51, p < 0.031). Meanwhile, fat mass (FM) gains were significant in the control group (p = 0.047, d = 0.6) and correlated (r > 0.60) with change in BMI in both the groups. Significant relative strength increases (p < 0.001) were found in the intervention group and were sustained over time.

Limits of ventricular function: from athlete's heart to a failing heart

The interest in the study of ventricular function has grown considerably in the last decades. In this review, we analyse the extreme values of ventricular function as obtained with Doppler echocardiography. We mainly focus on the parameters that have been used throughout the history of Doppler echocardiography to assess left ventricular (LV) systolic and diastolic function. The ‘athlete's heart’ would be the highest expression of ventricular function whereas its lowest expression is represented by the failing heart, independently from the original aetiology leading to this condition. There are, however, morphological similarities (dilation and hypertrophy) between the athlete's and the failing heart, which emerge as physiological and pathophysiological adaptations, respectively. The introduction of new assessment techniques, specifically speckle tracking, may provide new insight into the properties that determine ventricular filling, specifically left ventricular twisting. The concept of ventricular function must be always considered, although it may not be always possible to distinguish the normal heart of sedentary individuals from that of highly trained hearts based solely on echocardiographic or basic studies.