human physiopathology study

Relationships between ghrelin concentration in blood and growth and physical activity in children

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Reference: ETF6225ﾠ Abstract: The biochemical markers that influence the growth of children have not been investigated much. The main goal of the present study is to investigate the relationships between novel peptide hormone ghrelin and anthropometrical characteristics, body composition, physical activity and aerobic working capacity, also to examine the adaptation to aerobic work and weight … Read more

Neuroscience, neurology and psychiatry (NEURO) 2006 project�ANR-MeCP2synapse -Study of synaptic and neuronal physiological alterations in the MeCP2 gene deficient animals models of Rett syndrome

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Reference: ANRn.a.6-NEURn.a.003 Abstract: PROJECT SUMMARY – Scientific Background and Objectives�Mutations in the gene encoding the protein MeCP2, a transcriptional regulator binding methylated DNA, are causing neurological disorders – including Rett syndrome (RTT) – characterized by an apparently brain development normal.�The mice with truncated versions of MeCP2 show similar neurological deficits in patients RTT.�Deficits in dendritic … Read more

Increased levels of 4HNE-protein plasma adducts in Rett syndrome.

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Reference: Abstract: Rett syndrome (RTT) is a neurological disorder and a leading cause of mental retardation in females. It is caused by mutations in methyl-CpG-binding protein 2 (MeCP2) gene and more rarely in cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1) genes. Increased oxidative stress (OS) has been documented in MeCP2-RTT patients. Here, … Read more

From Synaptopathies to System Dysfunction

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Reference: Subproject to FZT 103 Abstract: This area of ??research focuses on genetic diseases that result in defects of synapse formation and function, which cause motor and cognitive deficits in Rett syndrome and as the associate autism.ﾠCause of Rett syndrome are encoded spontaneous mutations in X-linked MECP2 gene, the transcriptional regulator methyl-CpG binding protein 2 … Read more

Epigenetic dysfunction of MeCP2 in chronic heart failure (B03)

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Reference: B03 – Subproject to SFB 992: Medical Epigenetics (MEDEP) From basic mechanisms to clinical applications Abstract: The methyl-CpG-binding protein 2 (MeCP2) detects symmetrically methylated cytosine-guanine sequences (CpG) in the genomic DNA and modulate gene expression by recruiting coactivator and corepressor-proteins.ﾠWe found that MeCP2 is significantly downregulated in hypertrophic and failing heart.ﾠThe functional significance of … Read more

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