RNA-Seq expression profile of genes related to neurodegenerative disorders affecting the human retina

Human neurodegenerative diseases, such as Parkinson’s disease (PD) and the neuromuscular disorders called dystroglycanopathies (DGPs), cause retinal impairments. We have used RNA-Seq technology to catalog all known genes linked to PD and DGPs expressed in the human retina and quantitate their mRNA levels in terms of FPKM. We have also characterized their expression profiles in the retina by determining their exonic, intronic and exon-intron junction expression levels, as well as the alternative splicing pattern of particular genes. We believe these data could pave the way toward understanding the molecular bases of sight deficiencies associated with neurodegenerative disorders.

The anthropometric profile of elite roller figure skaters

Although the anthropometric profiles of Olympic athletes, as a group, are well known, there is still a need for specific reference data for each sport given that each discipline has its own characteristics. This study has been designed considering the limited number of articles that focus on the anthropometric characteristics of artistic roller skating and, more specifically, the figures discipline. The aim of this study is twofold: firstly, to define the anthropometric profile, body composition and somatotype of male and female artistic roller figure skaters in order to establish specific profiles; and, secondly, to establish the differences between the anthropometric profiles, body compositions and somatotypes of male and female skaters. Twenty-nine professional roller skaters (male = 15, female = 14) underwent measurements of standard anthropometry (height, body mass, arm span, 8 skinfolds, 3 breadths and 11 girths). The somatotype was measured using the Heath-Carter methods. A T-Student test for independent samples was conducted in order to assess the differences between male and female skaters. Significant statistical differences were found between male and female skaters in terms of body mass, height, arm span, the sum of four and six skinfolds and all skinfold measurements. Male skaters have a BMI of 21.4± 1.6 and female skaters have a BMI of 21.5 ± 2.4. The results indicate that arm span is an important characteristic for skaters. Mesomorphy is the most important component, followed by endomorphy, for male and female skaters. Male skaters have an endomesomorphic somatotype (3.5-4.5-2.5) and female skaters have a balanced mesomorphic somatotype (3.3-4.1-2.9).