Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030567 (Parkinson's disease)
 63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The occurrence of phenotypic differences between monozygotic (MZ) twins is commonly attributed to environmental factors, assuming that MZ twins have a complete identical genetic make-up. Yet, recently several lines of evidence showed that both genetic and epigenetic factors could have a role in phenotypic discordance after all. A high occurrence of copy number variation (CNV) differences was observed within MZ twin pairs discordant for Parkinson's disease, thereby stressing on the importance of post-zygotic mutations as disease-predisposing events. In this study, the prevalence of discrepant CNVs was analyzed in discordant MZ twins of the Esophageal Atresia (EA) and Congenital Diaphragmatic Hernia (CDH) cohort in the Netherlands. Blood-derived DNA from 11 pairs (7 EA and 4 CDH) was screened using high-resolution SNP arrays. Results showed an identical copy number profile in each twin pair. Mosaic chromosome gain or losses could not be detected either with a detection threshold of 20%. Some of the germ-line structural events demonstrated in five out of eleven twin pairs could function as a susceptible genetic background. For example, the 177-Kb loss of chromosome 10q26 in CDH pair-3 harbors the TCF7L2 gene (Tcf4 protein), which is implicated in the regulation of muscle fiber type development and maturation. In conclusion, discrepant CNVs are not a common cause of twin discordancy in these investigated congenital anomaly cohorts.
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PMID:Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts. 2207 87

The name of Parkinson is universally famous because of the eponymous disease. But as a man, James Parkinson (1755-1824), is poorly known. He was born, married and passed away in his St-Leonard parish in Shoreditch (London). After having studied Latin, Greek, natural philosophy, and stenography (shorthand), which he considered as the basic tools of any doctor, he studied for six months at the London Hospital Medical College, and served his apprenticeship as an apothecary-surgeon with his father for six years. Then he was qualified as a surgeon in 1784 at the age of 29 years. His activity has been deployed in three areas: 1) medicine, 2) political activism and social reformism, 3) paleontology and oryctology. As a physician, Parkinson has published several books, the most important concerned paralysis agitans (future Parkinson's disease), gout, complications of lightning (future Lichtenberg figures and keraunoparalysis), acute appendicitis (with his son John Parkinson) and hernias (diagnosis, development, dangers of hernia ruptures, and design of a simple truss). Its ideological and political commitment was manifested by joining two secret societies and publishing numerous pamphlets, many of which are signed by the pseudonym Old Hubert; he campaigned for a better representation of the people in Parliament, for greater social justice, for the defense and recognition of the rights of the poor, the insane, the children, and against children abuse. He published a small compendium of chemistry, he was one of the thirteen members who create the British Geological Society and is recognized as one of the founders of paleontology; as was Georges Cuvier (1769-1832), he remained a strong supporter of creationism and catastrophism. Distinguished oryctologist, he gave his name to several fossils, mainly molluscs.
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PMID:[James Parkinson (1755-1824) revisited]. 2350 22