Factor identified that makes treating aging hearts with gene therapy difficult
...e a toxic effect on patients. Hajjar says that the deficiency in integrins in the aging population may have a generally positive role in defending against viral infections. As people age, their immune systems weaken, and expressing fewer integrins may be a way to compensate. But of course, the cells cannot tel...Stanford research points to chance as cause of genetic diseases in Ashkenazi Jews
...ation causes a type of hemophilia called Factor 11 deficiency type II. The majority of the mutations - including all of the mutations in lysosomal storage genes - entered the population when the Ashkenazi Jews formed a coherent group about 50 generations ago. The final mutations cropped up in the Lithuanian As...Fetal death, miscarriage linked to genetic mutation
...oticed that the tiny mouse placentas with the E2F3 deficiency looked different. Rather than dismiss it, he shared his observation with Leone. It would have been so easy to ignore something that you dont know very much about, says Leone, but I thought the consequences could be significant. Leone had been studyi...Metal ions may play big role in how we sense smells
... is that one of the first symptoms of dietary zinc deficiency is loss of the sense of smell," Suslick said. "That, too, is keeping with this idea that the olfactory receptors are metalloproteins."...How postnatal experience influences brain development and brain function
...er and the University of Minnesota that there is a deficiency in corticocosteroid regulation after exposure to mild stress in children with Fragile X syndrome. Greenough's latest findings on schizophrenia were announced at last year's annual meeting of the Society for Neuroscience. Greenough's doctoral student...Fasting forestalls Huntington's disease in mice
.... In related NIA studies, mice that have a genetic deficiency in BDNF are diabetic. Increasing BDNF levels in the brain improves glucose regulation in these mice. But it remains unclear whether the abnormal regulation of glucose metabolism associated with HD involves a BDNF pathway."We're looking at BDNF very c...Gene targeting technique extended to human embryonic stem cells
... as Lesch-Nyhan, a condition that causes an enzyme deficiency and manifests itself in its victims through self-mutilating behavior such as lip and finger biting and head banging. The study of genes derived from human ES cells, as opposed to those found in mice, is important because, while there are many genetic...Newly developed tool aids study of Fragile X syndrome
...Center and the University of Minnesota had found a deficiency in corticocosteroid regulation after exposure to mild stress in children with Fragile X syndrome. A reduced level of the glucocorticoid receptor, in the absence of the FMRP protein, Weiler said, would plausibly affect corticorsteroid feedback mechan...Artemis: a little bit is not enough
...when studying children with severe combined immune deficiency and reduced tolerance to radiation, Jean-Pierre de...nes could be responsible for other cases of immune deficiency and/or lymphoma. In an accompanying Commentary, Vicky Brandt and David Roth (of The Skirball Institu...Effects of rare, devastating disease linked to shrinking of cells' telomeres
...complexity of the genetic interactions between Atm deficiency and telomere dysfunction" in living mice, the authors wrote....Female hormones found to protect against harmful effects of fructose
...bination of fructose diet and estrogen/sex hormone deficiency are required to elevate blood pressure in female rats. Conclusions These experiments demonstrate that the effects of a fructose diet on metabolism and blood pressure are dependent on sex gender. Female rats are protected against fructose-induced hy...Researchers find enzyme that triggers hardening of the arteries
...es rather than the cholesterol esters. The ACAT2 deficiency also triggered a compensatory increase in HDL, the good cholesterol. The researchers noted that monkeys with elevated ACAT2 in the liver have increased susceptibility to atherosclerosis. The results suggest that pharmaceuticals that inhibit ACAT2 "...International team uses genomic tools to discover gene for childhood genetic disorder
...r Sick Children that the symptoms were caused by a deficiency in an enzyme called cytochrome c oxidase (COX) tha...metabolism. But the genetic defect underlying this deficiency still remained unknown. Scientists then began to conduct family studies to identify the gene involv...Mutation in DKC1 gene can cause rare aging disease and cancer
... was the primary cause of the syndrome. Telomerase deficiency may nevertheless exacerbate the disease and needs further study. Our results proved that mutations to the DKC1 gene cause DC with its premature aging, bone marrow failure and cancer, explained Pier Paolo Pandolfi, M.D., Ph.D. head of the Molecular an...Increased bone mass in a calcitonin knockout mouse full of surprises
...and were able to maintain bonemass during estrogen deficiency by increasing bone formation. These findingssuggest an important and novel function for the products of the CT/CGRPgene, that was previously unrecognized. They also suggest that thedevelopment of an antagonist to the CT/CGRP gene product(s) may be us...Could an anti-marijuana compound hold the key to body weight and appetite control?
...at stores increase, was reported. Specifically, a deficiency of leptin has been found in obese animal subjects. SR141716 has been shown to induce a significant decrease in food intake and body weight gain and reduce the intake of a high fat diet in these obese rats. Now, a new research effort seeks to assess...JCI table of contents, December 15, 2002
...and were able to maintain bonemass during estrogen deficiency by increasing bone formation. These findingssuggest an important and novel function for the products of the CT/CGRPgene, that was previously unrecognized. They also suggest that thedevelopment of an antagonist to the CT/CGRP gene product(s) may be us...Gene responsible for anemia (type CDA-1) discovered
...tion. CDA-1 is characterized by a medium to high deficiency in blood production, and in critical cases patients must receive blood transfusions throughout their lifetime. It is a rare disease present worldwide, but the largest vulnerable group is the Negev Desert's Bedouin population, where marriage among rel...Mouse gene knockout illuminates how light resets clock
...ne for the photopigment melanopsin show a dramatic deficiency in their ability to regulate their circadian rhythms by light. The discovery, by National Institute of Mental Health (NIMH) grantees, helps unravel the heretofore elusive mechanisms by which day/night cycles regulate such rhythms in mammals. NIMH gr...Checkpoint protein blocks chromosome breaks at fragile sites
...niversity of Hawaii, while studying how folic acid deficiency is responsible for the chromosomal break in a rare condition called Fragile X Syndrome. Males with this syndrome have profound mental retardation. Glover also has shown that cell cultures exposed to very high doses of caffeine have more fragile site ...