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Tag: "defect" at biology news

Fox Chase Cancer Center scientists identify immune-system mutation

... discovered the mice with this naturally occurring defect in Fox Chase's laboratory animal facility in 1997....ller-cell pathway. "Our new study identifies this defect as a point mutation in the zinc finger transcription factor Th-POK. We show that when the normal for...

Current human embryonic stem cell lines contaminated UCSD/Salk team finds

...e called "feeder cells" from mice with ahuman-like defect in Neu5Gc production. They noted that they haverecently produced such a mouse. Another possibility being attempted bygroups in other parts of the world is to use human embryo-derivedconnective tissue cells as the feeder layer in the culture.A further...

Enzyme allows B cells to resist death, leading to leukemia

...gesof disease, B-CLL is the result of an undefined defect in theprogrammed signals that trigger normal B cell death (apoptosis). LivioTrentin and colleagues from Padua University School of Medicine nowdemonstrate that high levels of expression and altered cellularlocation of an enzyme in B cells known as Ly...

Muscle-targeted gene therapy reverses rare muscular dystrophy in mice

...r dystrophies. Patients with Pompe disease have a defect in a key enzyme that converts glycogen, a stored form of sugar, into glucose, the body's primary energy source. As a result, glycogen builds up in muscles throughout the body, including the heart, causing muscles to degenerate. Using genetically alt...

Critical role in programmed cell death identified

...l death is essential and animals with a cell death defect die. The researchers demonstrated that when they cause worm mitochondria to fragment without instructing cells to die, the cells still die and when they block fragmentation, the cells survive; in other words, blocking fragmentation prevents cell dea...

Discovery Promises Simpler Therapy for Sickle Cell Disease

...d cells." The finding marks the first time that a defect in the ability of patients' red blood cells to process nitric oxide has been linked to a disease, the researchers said. The findings also raise the possibility that defective nitric oxide processing by red blood cells may represent a new class of blo...

Gene therapy promising for growing tooth-supporting bone

...viral approaches to delivering gene therapy to the defect site. Alternatively, scientists could conduct the gene therapy outside the body using a tissue biopsy and then transplant the genetically-modified cells back into the patient, but this would require two surgical procedures instead of one. The Molecu...

Harmful chemicals may reprogram gene response to estrogen

...e researchers used a special strain of rats with a defect in a gene called Tsc-2 (tuberous sclerosis complex... factors. A 2003 study of Jewish women born with a defect in BRCA1, the gene that is linked to inherited forms of breast and ovarian cancer, showed that those...

Same-Sex Mating Discovered in a Toxic Fungus

...er genes with known roles in mating -- exhibited a defect in fruiting. The newly described mating strategy might allow a single mating strain to expand rapidly by cell division, yet retain its ability to generate diversity by undergoing sex, said Heitman. That diversity might provide an advantage when face...

Genetic defects give the immune system the green light to attack the pancreas

...uya Yamagata, M.D., Ph.D, from Japan. The genetic defect keeps the body from properly dealing with “errant?immune cells that it normally eliminates by a process called immunological tolerance. These immune cells then attack the insulin-producing beta cells in the pancreas, mistaking them as foreign invader...

New tumor-suppressor gene discovered

...ene to tumor-plagued flies known to have a genetic defect in their mats gene, then found that tumors no long...that these flies had a naturally occurring genetic defect that caused them to develop the tumors. He used genetic-mapping techniques to study the mutant fly's...

UCSD research reveals mechanism involved with type of fatal epilepsy

...tients. Thus, researchers have long thought that a defect in glycogen metabolism is intimately linked to the disease. Recessive mutations in two genes have been shown to cause Lafora disease. The genes encode the proteins laforin and malin, but the molecular mechanism defining how loss of laforin or malin c...

Tendency to hair loss inherited from the mother

...her's side rather than their father. However, this defect is not simply caused by one gene: "We have indicat...rents' sex," Prof. Nöthen stresses. The hereditary defect can therefore sometimes also be passed on directly from father to son. Bald men wanted In order to ...

Important discovery about second most fatal cancer

...sk population. 3. An understanding of the genetic defect may provide important insight into the basic cause of the common non-inherited forms of the same type of cancer. The findings of Dr. Jass and his colleagues are reported in the March 2005 edition of Clinical Gastroenterology and Hepatology, publishe...

Researchers pioneer new gene therapy technique using natural repair process

...rt of therapy because you only need to correct the defect in a small number of immune cells to fix the problem," said Dr. Porteus, assistant professor of pediatrics and biochemistry at UT Southwestern. "This is called selective advantage; the healthy cells grow and divide preferentially over the mutant ones...

Attacks of King George III's madness linked to key metabolism molecule

...hat's crucial to the normal manufacture of heme. A defect in this genetic signaling pathway could cause ALAS-1 to accumulate in high levels, leading to the symptoms of porphyria attacks. "We found that PGC-1 alpha is an important factor controlling the expression of ALAS-1 in the fasted and fed liver," the...

Fruit fly studies open new window on cancer research

...tion of the transporters was so significant that a defect in one of them reduces a fly's growth by about half. Dr Deborah Goberdhan, one of the researchers involved, said, "We are now looking at whether human equivalents of these fruit fly genes act in the same way. If they do, then new drugs or even diet...

The synapse is a shotgun

...as myasthenia gravis, a common disorder in which a defect in nerve impulse transmission results in muscle weakness. In this and other neurological diseases, "there may be an anomaly at the receptor level, but it is impossible to pinpoint the problem with existing techniques. With our modeling technique, we ...

Defect in gene causes 'neuralgic amyotrophy'

...n and Peter De Jonghe, have discovered the genetic defect that underlies HNA. In this effort, the researcher...HNA is the first mono-genetic disorder caused by a defect in a gene of the Septin family. The researchers do not yet know exactly how Septin 9 functions in t...

Change in gene may be underlying molecular defect in some colorectal cancers

...olecular defect. The molecular basis for the field defect is easy to understand when tumors develop from cel...ogen such as tobacco smoke. However, how the field defect may arise in most sporadic cancers in unclear. In colorectal cancer, the DNA repair gene O 6 -methy...

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