Penn study finds signs folic acid and Vitamin B12 may lessen some ill effects of SMA
...rs. Individuals afflicted with SMA have a genetic deficiency in a protein calledSMN (survival of motor neurons), which is a "housekeeping" protein requiredby all cells -- especially motor neurons, the nerve cells that control theactivity of muscles. When the levels of the SMN protein are too low, motorneurons ...Understanding lens development
...ly deficient in Pax6 fail to develop eyes. Partial deficiency of Pax6 in humans causes the disease aniridia. In prior work, Dr. Kondoh and colleagues identified the gene regulator, Sox2, as a necessary component of the molecular machinery that drives normal lens development. It is in this paper that Dr. Kondoh ...New molecular key to disposal of dying cells
...r ability to clear cells," said Matsushima. Such a deficiency suggests that the mer knockout mouse may be a suitable animal model for studying SLE, the study authors stated. Still, a defective Mer gene in SLE patients has not been identified. Mer might also be involved in dampening the body's inflammatory respo...Effects of iron-deficiency anemia in infants linger
...ssor of pediatrics and communicable diseases. Iron deficiency - a severe lack of iron in the blood - is the most common single nutrient deficiency in the world and infants are one of the age groups at highest risk, Lozoff says. In the U.S., iron f...Scientists: nutritional deficiency can boost influenza virus damage
...hanges," she said. "What that suggests is that the deficiency in selenium altered their immune response, and so ...balance in all the essential nutrients, and that a deficiency in one can have a profound effect." The new work lays the groundwork for demonstrating that a spe...Neonatal diabetes tied to gene defect
...ses of neonatal diabetes resulting from a complete deficiency of glucokinase, an enzyme that plays a crucial role in the regulation of blood-sugar levels. Permanent neonatal diabetes mellitus is a rare disorder, occurring in about one in 400,000 live births. The two children described in the paper required ins...Effective acne treatments remain elusive, Hopkins researchers find
...n suggests that a lack of research standards and a deficiency of studies comparing drugs directly to each other might be to blame for the lack of consensus on best acne therapies. "Dermatologists know a lot about acne," Lehmann says. "But without standards and guidelines for dermatological research, it's extre...Merlin tells when to grow and when to stop
...t implications for the understanding of how merlin deficiency contributes to tumorigenesis. NF2 patients display multiple tumors derived from glial cells. This work suggests that because these glial cells lacked the merlin/CD44 growth regulatory switch, they were able to overcome contact growth inhibition. Alth...Florida scientists find enzyme replacement restores muscle strength in mice with Pompe's disease
...eart and respiratory muscles. Though acid maltase deficiency diseases are rare, afflicting about 70,000 people worldwide, the UF research could lead to new treatments for as many as 50 other related genetic disease in which an important enzyme is missing or defective, Byrne said. Enzyme replacement therapy to...Study points to positive results from vitamin D supplements for MS sufferers
...ers on investigating whether a low level vitamin D deficiency in MS patients might account for the incidence of brittle bones. Cantorna asked Cosman for blood samples from the participating patients to see if the same changes she had observed in mice also occur in humans who receive vitamin D supplementation...New light shed on vitamin A's role in the body's natural defenses
...uite a few animal studies that show that vitamin A deficiency affects inflammation and the immune system's response," she says. "These new data from experiments with human cells suggest that vitamin A augments natural interferon's regulatory response. Less interferon may be necessary when the active form of vi...Mice nibbling at the secrets of NF1
...her clinical features of NF1. This conditional NF1 deficiency model will undoubtedly improve our understanding of the physiological role of NF1 and the progression of this common genetic disease....Treatment in mice proves effective against Duchenne muscular dystrophy
...ule in question the alpha 7 integrin in 1985. A deficiency of this molecule exists in several forms of congenital muscular dystrophy. Conversely, Kaufman and his colleagues found that more of the integrin is present in Duchenne patients. These patients fail to produce another protein, dystrophin, which mus...Zebrafish could become genetics 'lab rat' of choice
...for genetic studies of vertebrate development, one deficiency of this model system is the absence of methods for cell-mediated gene transfer and targeted gene inactivation. In mice, embryonic stem (ES) cell cultures are routinely used for gene transfer and provide the advantage of in vitro selection for rare ev...Scientists create first animal model of Rett Syndrome
...by brain malfunction rather than problems of Mecp2 deficiency in the rest of the body. Contrary to previous theories, the authors also indicate that the role of Mecp2 is not limited to the development of the brain before birth, but is also critical in the maintenance of mature neurons after birth. This suggest...Vitamin A activates gene to guide kidney development
... activate ret gene may explain effect of vitamin A deficiency on kidney development Vitamin A deficiency during fetal development and mutations in ret, the gene that encodes an enzyme called a receptor tyr...Excess iron stores more common than anemia in study of U.S. elderly
...s iron stores pose a greater health risk than iron deficiency in the elderly, because elevated iron stores have been linked to chronic diseases such as cancer, diabetes and heart disease. The 1016 participants were all surviving members of the original cohort of the Framingham Heart study and ranged in age f...Scientists identify gene for the leading form of dwarfism
... a greatly enlarged colon; immune deficiency and susceptibility to infections; and a predisposition to lymphoma and certain other cancers. "Our finding is an important first step in understanding how this disease a...Nutrient-dense food products improve cardiovascular health in frail elderly
...ese metabolites emphasizes the subclinical vitamin deficiency state in this group of frail elderly. Similar decreases in Hcy in previous studies predicted a 10% reduction in risk of coronary artery disease, but more data are needed to interpret what a 10% reduction of risk would mean in an elderly population. ......y raising eight pigs per pen, there was an overall deficiency in lean growth because the hogs were fighting for food. Some of the dominant pigs "hog the trough" as it were, and eat more than they need. "Thats just nutrients going down the drain," Muir says. The less aggressive hogs, on the other hand, dont get ...