defect

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...

Researchers Discover Gene That Determines Asthma Susceptibility By Regulating Inflammation

...ext generation of asthma drugs. Suspecting that a defect in antioxidant response exacerbates asthma severity, the team of researchers began looking into the genetic factors that might contribute to this deficiency. In 2002, Biswal’s lab discovered Nrf2 acts as a master regulator of the majority of antioxid...

miRNAs and musculature

...has been ablated by gene targeting (Dmir-1 KO). A defect is only revealed when larval growth is initiated by feeding, which triggers paralysis and eventually death of Dmir-1 KO larvae. Analysis of the mutant larvae after feeding reveals disrupted somatic musculature, strongly suggesting a role for Dmir-...

Defective Gene Linked to Two Inherited Immune Deficiencies

...at funded the study. “To find a specific molecular defect that is the apparent cause of illness in a substantial subset of individuals with these two diseases is extremely important. Not only will this finding enable us to better diagnose these patients, it provides clues to key biochemical pathways that ca...

Agreement will speed research on microbicides for women

...at funded the study. “To find a specific molecular defect that is the apparent cause of illness in a substantial subset of individuals with these two diseases is extremely important. Not only will this finding enable us to better diagnose these patients, it provides clues to key biochemical pathways that ca...

Biologists Crack Genetic Code for Specialized Spider Silk

...at funded the study. “To find a specific molecular defect that is the apparent cause of illness in a substantial subset of individuals with these two diseases is extremely important. Not only will this finding enable us to better diagnose these patients, it provides clues to key biochemical pathways that ca...

Gene therapy reverses genetic mutation responsible for heart failure in muscular dystrophy

...msters with this particular delta-sarcoglycan gene defect have severe muscle wasting and weakness and significantly shortened lifespans due to cardiac and respiratory failure. After injecting a very high dose of AAV-8 carrying a normal copy of the delta-sarcoglycan gene intravenously into 10-day-old and ad...

A little telomerase isn't enough

...nter, discovered that the family carried a genetic defect that caused the telomerase protein to be half as effective as normal and that shortening telomeres were to blame for earlier onset. In this family, the affected grandmother developed gray hair in her 20s and lung problems in her early 60s and died ...

New study examines how sense of smell affects mating and aggression in mice

...the mutants without the MOE even showed a profound defect in initiating chemoinvestigation of the test females." When a wild-type male encounters another male, he will typically sniff the male and then initiate a fight. However, the mutant males were defective in sniffing the test wild-type males, and they...

How Fruitflies Know It's Time for Lunch

...nicky pumpless (ppl) mutants, which have a feeding defect similar to klu, overexpress hug. Behavioral studies confirmed that too much hug reduces food intake and leads to stunted growth, while too little stimulates eating. Melcher and Pankratz selected a group of flies and blocked the synapses of their hug...

Researchers show key protein necessary for normal development of red blood cells

... cells to correct a genetic defect. To correct the defect or mutation, a gene may be replaced, altered or supplemented. According to Lloyd, the production of blood cells involves a complex differentiation pathway that involves the interaction of many molecular players and proteins. In humans, there are f...

Discovering the first steps in transcription-coupled repair

...was inability to deal with damaged DNA or a subtle defect in general transcription," says Cooper. "To understand the exact nature of the problem we first needed to know how stalled RNAPII is recognized." The protein CSB, which in a mutated form causes one kind of Cockayne Syndrome, was known to recognize s...

Birth defects: 8 million annually worldwide

... births worldwide -- are born with a serious birth defect of genetic or partially genetic origin, according to a new report from the March of Dimes. Additionally, hundreds of thousands more are born with serious birth defects of post-conception origin due to maternal exposure to environmental agents, such ...

Clawed frog helps Fanconi anemia research make leaps

...n. Fanconi anemia is thought to be the result of a defect in the Fanconi genes' ability to repair DNA damage. Hoatlin said there are many advantages to using the frogs' eggs, instead of human cells, to study Fanconi anemia. "In human cells, most of the Fanconi proteins are hard to detect, so you have to...

Junk DNA may not be so junky after all

...congenital megacolon, is a relatively common birth defect marked by bowel obstruction. MEN2 is an inherited predisposition to neuroendocrine cancers. The notion that mutations in enhancers play a role in human disease progression has been difficult to confirm because usually enhancers are located in the 98...

Infused spleen cells found not to impact islet recovery and reversal of type 1 diabetes in mice

...congenital megacolon, is a relatively common birth defect marked by bowel obstruction. MEN2 is an inherited predisposition to neuroendocrine cancers. The notion that mutations in enhancers play a role in human disease progression has been difficult to confirm because usually enhancers are located in the 98...

Powerful technique for multiplying adult stem cells may aid therapies

...value, Lodish says. With gene therapy, a genetic defect is corrected by administering a healthy version of the gene into a patient. For example, a physician isolates hematopoietic stem cells from a patient, introduces a harmless virus into them that expresses a correct version of the mutated gene, and the...

Defective immune system response to smallpox vaccine detailed in new study

...onal Institutes of Health (NIH), have identified a defect in the immune response of people with the skin condition atopic dermatitis that puts them at risk of developing serious complications following smallpox vaccination. Led by Donald Y.M. Leung, M.D., Ph.D., of the National Jewish Medical and Research C...

Scientists discover that widely available drug also helps fight kidney disease

...ols an important regulatory protein called mTOR. A defect in polycystin-1 leads to over-activation of mTOR. This, in turn, causes excess growth and proliferation of kidney cells, which results in the formation of thousands of cysts that eventually destroy the kidney. Fortunately, a highly effective inhibit...

Potential heart benefit found in stem cells

...ify the extent of stress-induced or rest perfusion defect (scar tissue) in patients with ischemic cardiomyopathy, or blockages in the arteries leading to the heart infarction. In the study, 17 patients with ischemic cardiomyopathy were treated with a combined percutaneous injection (both intramyocardial an...

Congenital rubella syndrome nearly eradicated in the US

Congenital rubella syndrome, a birth defect caused by the rubella virus (also known as German measles), has practically been eliminated in the U.S., according to a statement published in the April 2006 issue of Birth Defects Research Part A, the official journal of The Teratology Society. The ...

Is the brain wired for faces?

...with recognizing faces, which might be caused by a defect on the neural level. Breakthroughs in this kind of research could someday lead to targeted therapies for the millions of people who suffer from these disorders. "The findings are exciting because we are now going to apply this technique to probe the...

New weapon in battle against osteoporosis

...liha Karsak found that mice with a particular gene defect have a lower bone density. This breakthrough is ma...roup," says Dr. Karsak. Individuals who carry this defect in their genetic make-up are not destined to have problems. However, as she points out, "Women with ...

'Prosthetic' retinal cells let blind mice see light

...e with photoreceptor deficiency that resembles the defect in such inherited human disorders as retinitis pigmentosa. Unlike the retinal rods and cones that normally function as light-sensing cells in the eye, these retinal neurons are normally not photosensitive. The light-sensitive protein they used, calle...

Cincinnati surgeons report new treatment for often-fatal injury

...er cuffs are hard to align and often slip into the defect to cause further complications," says Dr. Giglia. "Using a fixed stent provides an easy-to-see 'scaffolding' that can guide the surgeon to more accurately secure the extender cuffs and create a strong seal." Once in place, the dual lining supports ...

New pathways for autoimmune treatment identified

A rare genetic defect that can trigger a host of diseases from type 1 di...ases over a lifetime. The same mutation causes a defect in i NKT cells, a type of regulatory cell that helps the immune system fight infections while suppr...

Study finds how organs monitor themselves during early development

...germ cells. The animal could well mature with this defect and suffer from reduced fertility. But it does not. Instead, they found that the ovary has a way to sense its lack of germ cells and steps up production. "Within three days, the ovary catches up; it then has enough germ cells," says Dr. Gilboa. "I ha...

Brain enzyme treatment relieves memory lapse in Alzheimer's mice

...tion of ubiquitin-tagged proteins, suggesting some defect of the protein degradation machinery, the researchers noted. Studies of the brains of humans with Alzheimer's after death found evidence that the proteasome remained intact but largely unable to degrade proteins. Interestingly, Uch-L1--a protein fo...

Parkinson's disease mechanism discovered

...riments by Cooper revealed that an important early defect affected the machinery that transports proteins be...n within vesicles for transport from the ER. But a defect in ER trafficking caused by alpha-synuclein accumulation could cause the toxic buildup of dopamine t...

Cigarette smoke blocks cell repair mechanism, University of Florida study shows

... true mutagenic characteristics," Narayan said. "A defect in only one cell is important for growth of a full-blown tumor. You don't need 1,000 or 1 million cells to be affected. Only a single cell which may have genomic instability due to compromised DNA repair capacity of the cell can be sufficient for a t...

UT Southwestern researchers find gene mutation that leads to 'broken hearts'

...nce . "We coined the term 'brokenhearted' for this defect because two kinds of cardiac cells separated, thus...ynthesis of a small lipid caused this broken heart defect in fruit flies. One of these enzymes, HMG CoA reductase, also plays a key role in the synthesis of c...

UF scientists restore sight to chickens with blinding disease

...e of Rhode Island Red chicken -- carries a genetic defect that prevents it from producing an enzyme essentia... years that have gone into discovering the genetic defect and developing a therapy for it. "We can do amazing things in animal models," Semple-Rowland said, ...

'Sticky' mice lead to discovery of new cause of neurodegenerative disease

...i mutation. They were surprised to find a subtle defect in a gene that codes for part of the cell's protei...studies, it did not expect that such a fundamental defect in protein synthesis could be behind the neurodegeneration they had observed in sticky mice. "There ...

Gene first linked to rare disease may trigger skin cancer, other tumors

...mors taken from the mutant mice suggested that the defect stemmed from an increase in cell proliferation rather than cell survival. Isolated CYLD-deficient skin cells, when treated with the tumor-inducing chemicals, began to proliferate due to an accumulation of Bcl-3 in the nucleus, they found. Treatment w...

Study identifies new role for breast cancer susceptibility gene

...rowth and maturation. The researchers found that a defect in a repressor complex formed by BRCA1, CtIP, and ... cells and fortify the pathogenic relevance of its defect to neoplastic growth," concludes Dr. Lee. ...

Researchers find cause of frontotemporal dementia

...earch has previously shown that FTD is caused by a defect in chromosome 17. Chromosome 17 is the carrier of ...itive FTD (FTDU). Patients with FTDU do not have a defect in the tau protein, but in another protein in chromosome 17. Christine Van Broeckhoven's research te...

Scientists reverse evolution

...sary for breathing. (About 20 people with the same defect have been found among Apache and Navajo Indians in Arizona and in families in Turkey and Saudi Arabia. Their brain stem defects result in problems with breathing, hearing, balance and con-trol of the eyeballs.) -- The Hoxb1 gene, which orders the ...

Radiologists attempt to solve mystery of Tut's demise

...g material. These bone fragments matched exactly a defect within the first vertebra in the neck. They found ... of bone that lies immediately underneath the bone defect in the skull base through which the spinal cord emerges," Dr. Selim said. Dr. Selim's team did n...

How blood flow dictates gene expression

...dings implicate loss of vessel tone as the primary defect in Klf2 knockout mice. Now that Klf2 has been established as an important regulator of blood flow in live animals and is required for the development of a healthy cardiovascular system, the next step is to elucidate the role of Klf2 in normal adu...

Buildup of damaged DNA in cells drives aging

...t had been generated in the laboratory to harbor a defect in their XPF-ERCC1 enzyme and that had symptoms of rapidly accelerated aging to the genes expressed by normal mice of the same age. This comparison revealed a profound suppression of genes in several important metabolic pathways in the progeroid mice...

Researchers discover new gene responsible for brittle bone disease

...ved in OI were dominant, meaning that if you had a defect in the gene in your chromosome, you developed the disease. That left open the possibility that the mutation causing OI was spontaneous, that something went wrong for the first time in the gene of the person developing it, and not inherited from paren...