Aneta Klimberg

A study of molecular changes relating to energy metabolism and cellular stress in people with Huntington’s disease: looking for biomarkers

Huntington’s disease (HD) is a neurodegenerative disorder characterized by a progressive motor and cognitive decline and the development of psychiatric symptoms. The origin of molecular and biochemical disturbances in HD is a mutation in the HTT gene, which is autosomally dominantly inherited. The altered huntingtin protein is ubiquitously expressed in the CNS, as well as in peripheral tissues. In this study we measured the metabolism changes in gene transcription in blood of HD gene carriers (premanifest and manifest combined) versus 28 healthy controls. The comparison revealed statistically significant Global Pattern Recognition Fold Change (FC) for 6 mRNA transcripts, reflecting an increase of: MAOB (FC = 3.07; p = 0.0005) which encodes an outer mitochondrial membrane-bound enzyme called monoamine oxidase type B; TGM2 (FC = 1.8; p = 0.02) encoding a transglutaminase 2 that mediates cellular stress; SLC2A4 (FC = 1.64; p = 0.02) solute carrier family 2 (facilitated glucose transporter) member 4; branched chain ketoacid dehydrogenase kinase (BCKDK) (FC = 1.34; p = 0.02); decrease of LDHA (FC = −1.16; p = 0.03) lactate dehydrogenase A; and brain-derived neurotrophic factor (BDNF) (FC = −2,11; p = 0.03). These distinguished changes coincided with HD progress. The analyses of gene transcription levels in sub-cohorts confirmed these changes and also revealed 28 statistically significant FCs of gene transcripts involved in ATP production and BCAA metabolism.

Assessing physical activity and sedentary lifestyle behaviours for children and adolescents living in a district of Poland. What are the key determinants for improving health

INTRODUCTION Adequate levels of physical activity throughout an individuals life ensure an optimal state of health. Only 30% of adolescents and 10% of adults perform sufficient physical activity to facilitate proper physical, psychological/mental and emotional development. OBJECTIVE Determining physical activity behaviour in children and adolescents through surveying the opinions of school pupils and parents, in order to lend support for optimised educational programmes designed to promote healthy lifestyle behaviour, as well as establishing consistent answers. MATERIALS AND METHODS A randomised survey was conducted on two groups of n=1100 pupil subjects, each attending elementary or secondary school, with the former in Classes 5 and 6, whereas the latter were aged between 16-19 years old; in both instances parents were also included in the survey. All subjects came from the Kalisz District in western-central Poland, and were divided into those living in the city of Kalisz and those in the surrounding rural areas. RESULTS It was found that 87%, 96% and 89% of elementary, middle and secondary school pupils, respectively, participated in Physical Education (PE) lessons. The numbers of pupils who daily, or almost daily, spent time on a computer, were 52%, 60% and 70%, respectively, for elementary, middle and secondary schools, and likewise 70%, 62% and 48% for watching TV. CONCLUSIONS It is vital that education programmes with a focus on a healthy lifestyle are introduced and targeted at teenagers in order to promote physical activity during the crucial time of the bodys development. The period of maturing into adulthood is particularly crucial for acquiring the right knowledge, convictions, skills and attitudes that help shape a pro-healthy lifestyle in later years.

Alcohol consumption in Polish middle and high school pupils – has this rapidly increased during 2009–11?

INTRODUCTION The dynamic rise of alcohol consumption in adolescents is a matter of serious concern, requiring frequently updated monitoring. By such means, it is possible to optimise preventative measures for dealing with this problem. OBJECTIVE To estimate the magnitude/amount and frequency of alcohol consumed by middle and high school pupils in Poland, including the circumstances when alcohol was first drunk. MATERIALS AND METHODS A randomised survey was performed throughout Poland on middle school (junior high school) pupils, (n=9360) in 2009, followed by both middle and high school pupils in 2011 (n=7971). The questionnaire was devised by the Polish Chief Sanitary Inspectorate (GIS). RESULTS A strikingly sharp increase in alcohol consumption (29%) was observed in subjects between 2009 - 2011. In the latter year, 1 month prior to survey, respectively, 50% and 71% of middle school and high school pupils drank alcohol, and correspondingly, 36% and 63% of these pupils ever became intoxicated/drunk. CONCLUSIONS 1) Adolescent alcohol consumption increases with age and is highest in girls. Monitoring as well as in-depth analysis thus becomes necessary. 2) Systematic monitoring and analysis of changing healthy lifestyle behaviour should be used for taking the necessary corrective action. This should happen concurrently and consist of planned health education programmes, including health promotion.

F09 The study on molecular changes related to energy metabolism in Huntington's disease subjects: looking for biomarkers

Huntingtons disease (HD) is a neurodegenerative disorder characterised by a progressive motor and cognitive decline and psychiatric symptoms. The origin of molecular and biochemical disturbances in HD is the genetic defect in the HTT gene, autosomally dominantly inherited. The altered huntingtin protein is ubiquitously expressed in the Central Nervous System as well as in peripheral tissues. The aim of the study was to detect the metabolism changes on the transcription level in blood cells in HD subjects (n=29) with regards to the control, healthy subjects (n=28). The gene expression analysis was performed using quantitative PCR and StellAarray system. A panel of 94 genes involved in glycolysis, Krebs cycle, electron transport chain, BCAAs metabolism and other processes were selected to study. The results calculations were conducted by Global Pattern Recognition software with ΔΔCt type of analysis application. The comparison between HD and control revealed statistically significant Global Pattern Recognition fold change (FC) values for six transcripts, including a decrease of BDNF (−2.11), LDHA (−1.16) and an increase of BCKDK (1.34), MAOB (3.07), SLC2A4 (1.64) and TGM2 (1.8). Multiple analyses in sub-cohorts distinguished by gender, age, BMI, calf circumference, nutrition status, CAG number repeats, TFC, UHDRS motor and HD time from onset also showed 34 transcript FCs. The widest FC ranges decrease concerned to BDNF (from −1.66 to −3.6), BCAT2 (from 1.85 to −1.42) and increase to MAOB (from 1.87 to 7.89) transcript levels that coincided together with the length of HD duration period and the HD progress.