Popular Articles

During Pregnancy, Women With Endometriosis Need Special Care To Avoid Risk Of Premature Birth
The largest study to date of endometriosis in pregnant women has found that the condition is a major risk factor for premature birth, the 25th annual conference of the European Society of Human Reproduction and Embryology heard. Dr. Henrik Falconer, of the Department of Woman and Child Health, Karolinska Institute, Stockholm, Sweden, said that his team had found that women with endometriosis also had a higher risk of other pregnancy complications, as well as being more likely to give birth through Caesarean section. The research is published on-line in the journal Human Reproduction*.

Assumptions About Human Behavior Challenged By First Live 'Cloning' Of Faces
Computer scientists at the University of East Anglia (UEA) have developed a new way of cloning facial expressions during live conversations to help us better understand what influences our behaviour when we communicate with others.
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Food For Thought: Report Published Into The UK's Health
Medical scientists from Southampton have contributed to a major new report published today, setting out plans to enhance the nation"s health by improving diet, increasing physical activity and cutting harmful drinking.
Endocrinology

Huntington's: Researchers Gain Insight Into Mechanism Underlying The Disease

Researchers at the University of Kentucky Markey Cancer Center and Graduate Center for Toxicology (GCT) have gained new insight into the genetic mechanisms underlying Huntington"s disease and other neurodegenerative or neuromuscular disorders caused by trinucleotide repeats (or TNRs) in DNA. The research, performed in the laboratory of Dr. Guo-Min Li, UK professor of toxicology and biochemistry and the Madeline James & Edith Gardner Distinguished Chair in Cancer Research, examined the mechanisms involved in the development of a specific type of genetic mutation known as trinucleotide repeat expansions. Diseases associated with these mutations, including Huntington"s disease, are called trinucleotide repeat disorders. Findings were published in Nature Structural & Molecular Biology. GCT research scientist Caixia Hou, student Nelson Chan, and professor Liya Gu are coauthors of the study. "Mutations - the genetic changes in DNA - can lead to many different types of disease, depending on where and in what manner they occur," Li said. "How these genetic changes escape normal DNA repair systems and become ingrained in an affected gene pool leading to familial disorders has been a longstanding subject of study in my laboratory at the UK Medical Center." The expansion of TNRs at unique sites in the human genome is associated with at least 15 familial, neurodegenerative or neuromuscular disorders. The mechanism of TNR instability is poorly understood. However, because DNA expansions require DNA synthesis, DNA replication and/or DNA repair must be involved. Two key TNRs, CAG and CTG repeats - associated with Huntington"s disease and myotonic dystrophy, respectively - tend to form hairpin structures via strand slippage in the newly synthesized or "nicked" DNA strand during DNA synthesis associated with DNA replication and/or repair. These hairpin structures are highly thermo-stable and do not "melt" under normal physiologic conditions, and thus they are perceived as "fixed" in the DNA once formed, thereby leading to TNR expansions. Using an extract of human cells, Li and his colleagues identified a novel DNA repair pathway referred to as DNA hairpin repair (HPR), which specifically targets TNR hairpin removal in the daughter DNA strand, ensuring the fidelity of the TNR sequences in the parental strand. It is proposed that defects or inadequacies in the HPR system may be responsible for TNR instability in the disease state. Keith Hautala University of Kentucky


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