Search results for "HAP"
showing 10 items of 2767 documents
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
2004
Mitochondrial impairment has been implicated in the pathogenesis of the amyotrophic lateral sclerosis (ALS). Furthermore, mitochondrial-specific polymorphisms were previously related to other neurodegenerative diseases, such as Parkinson, Friedreich and Alzheimer disease. To investigate if specific genetic polymorphisms within the mitochondrial genome (mtDNA) could act as susceptibility factors and contribute to the clinical expression of sporadic ALS (sALS), we have genotyped predefined European mtDNA haplogroups in 222 Italian patients with sALS and 151 matched controls. Individuals classified as haplogroup I demonstrated a significant decrease in risk of ALS versus individuals carrying t…
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
2008
Contains fulltext : 71291.pdf (Publisher’s version ) (Closed access) Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients by direct sequencing analysis. Twelve out of 16 mutations were small insertions, deletions or splice site mutations. These changes would result in shifts of the open-reading-frame followed by premature termination of translation and haploins…
Psychological and behavioural factors associated with long-term weight maintenance after a multidisciplinary treatment of uncomplicated obesity
2013
Obesity is a multifactorial syndrome and the likelihood of success of a medical nutritional treatment (MNT) over the long term is low. As psychological and behavioural factors have an important role in both pathogenesis and the treatment of obesity, these issues were investigated in individuals with obesity who reported a long-term success or a failure in terms of weight loss following a MNT. Eighty-eight individuals of an original cohort of 251 subjects were re-evaluated 10 years after a MNT with cognitive-behavioural approach for uncomplicated obesity. Fifty-three participants were classified as failure (body weight change ≥0.5 kg) and 35 as a success (10-year body weight change <0.5 kg) …
Association of functional DBH genetic variants with alcohol dependence risk and related depression and suicide attempt phenotypes: Results from a lar…
2012
Abstract Objective Dopamine-beta-hydroxylase (DBH) metabolizes the conversion of dopamine to noradrenaline. DBH, located on chromosome 9q34.2 has variants with potential functional consequences which may be related to alterations of neurotransmitter function and several psychiatric phenotypes, including alcohol dependence (AD), depression (MD) and suicidal behavior (SA). The aim of this association study in a large multicenter sample of alcohol-dependent individuals and controls is to investigate the role of DBH SNPs and haplotypes in AD risk and associated phenotypes (AD with MD or SA). Method 1606 inpatient subjects with DSM-IV AD from four addiction treatment centers and 1866 control sub…
Relationship between mothers' enjoyment and sedentary behavior and physical activity of mother-child dyads using a movement-to-music video program : …
2020
Background: Parental support and participation in physical activity (PA) with children and parents' acting as a role model for less sedentary behaviors (SB) are critical factors for children's healthier lifestyle. The purpose of the study was to assess the relationship between mothers' enjoyment and participants' sedentary behavior (SB) and physical activity (PA) as a secondary analysis of a randomized controlled trial (RCT) using data from Moving Sound RCT in the Pirkanmaa area of Finland. Methods: The participants were 108 mother-child dyads (child age 5-7 years) who completed the eight-week exercise intervention using a movement-to-music video program in their homes. Mothers' enjoyment w…
Hsp60 response in experimental and human temporal lobe epilepsy
2015
The mitochondrial chaperonin Hsp60 is a ubiquitous molecule with multiple roles, constitutively expressed and inducible by oxidative stress. In the brain, Hsp60 is widely distributed and has been implicated in neurological disorders, including epilepsy. A role for mitochondria and oxidative stress has been proposed in epileptogenesis of temporal lobe epilepsy (TLE). Here, we investigated the involvement of Hsp60 in TLE using animal and human samples. Hsp60 immunoreactivity in the hippocampus, measured by Western blotting and immunohistochemistry, was increased in a rat model of TLE. Hsp60 was also increased in the hippocampal dentate gyrus neurons somata and neuropil and hippocampus proper …
Different immunohistochemical levels of Hsp60 and Hsp70 in a subset of brain tumors and putative role of Hsp60 in neuroepithelial tumorigenesis
2013
In this work we analysed, by immunohistochemistry, a series of brain tumors to detect the levels and cellular distribution of Hsp60 and Hsp70. We found that Hsp60 levels were significantly higher than those of Hsp70 in neuroepithelial tumors, while levels of both molecules were not significantly different from each other in meningeal neoplasms. In particular, Hsp60 immunopositivity was present mainly at the cytoplasmic level, while Hsp70 immunopositivity was found both in the cytoplasm and in the nucleus of tumor cells. The levels of these molecules in healthy control cells were always very low. Finally, Hsp60 and Hsp70 levels did not correlate with the different types (WHO grade) of neopla…
Successful application of preimplantation genetic diagnosis for hypokalaemic periodic paralysis.
2009
Hypokalaemic periodic paralysis is a rare dominant inherited disease where a person suffers sudden falls of circulating potassium concentrations, producing muscle weakness and sometimes severe paralysis. Attacks can occur as frequently as several times a day or once in a year. The age of onset is usually adolescence but symptoms can appear as early as 10 years of age. Muscle weakness can compromise vital functions such as breathing or swallowing and heart arrhythmias are also frequent during attacks. Preimplantation genetic diagnosis, an early form of prenatal diagnosis for couples at risk of transmitting inherited diseases, was used to prevent the transmission of this disease. Six polymorp…
Similar relative decline in aerobic and anaerobic power with age with in elite endurance and power master athletes of both sexes
2019
Lower physical activity levels in old age are thought to contribute to the age-related decline in peak aerobic and anaerobic power. Master athletes maintain high levels of physical activity with advancing age and endurance or power training may influence the extent to which these physical functions decline with advancing age. To investigate, 37-90-year-old power (n=20, 45% female) and endurance (n=19, 58% female) master athletes were recruited. Maximal aerobic power was assessed when cycling two-legged (VO2 Peak2-leg ) and cycling one-legged (VO2 Peak1-leg ), while peak jumping (anaerobic) power was assessed by a countermovement jump. Men and women had a similar VO2 Peak2-leg (mL·kg-1 ·min-…
Dipole Source Analyses of Early Median Nerve SEP Components Obtained From Subdural Grid Recordings
2010
The median nerve N20 and P22 SEP components constitute the initial response of the primary somatosensory cortex to somatosensory stimulation of the upper extremity. Knowledge of the underlying generators is important both for basic understanding of the initial sequence of cortical activation and to identify landmarks for eloquent areas to spare in resection planning of cortex in epilepsy surgery. We now set out to localize the N20 and P22 using subdural grid recording with special emphasis on the question of the origin of P22: Brodmann area 4 versus area 1. Electroencephalographic dipole source analysis of the N20 and P22 responses obtained from subdural grids over the primary somatosensor…