Tag: "syndrome" at biology news

Obesity Gene: Possible Link To Heart Disease Risk

...od withso-called insulin resistance syndrome. The syndrome -- characterized by highblood pressure, low levels...insulin and leptin playa coordinating role in this syndrome and whether leptin concentrations couldprovide an additional measure of heart risk. "Measuri...

UNMC, Boys Town National Research Hospital Researchers Locate Gene That Causes Combined Deafness And Blindness

... of blindness. It was firstidentified as a genetic syndrome by a clinician named Charles Usher in 1935. Ofthe ...arch group credited with finding thegene for Usher syndrome Type I. Subsequent research studies have found that thisgene encodes a protein called myosin VIIa. T...

Scientists Identify Key Protein Involved In Progressive Blindness

...disease called Usher syndrome. Childrenwith Usher syndrome develop progressive retinal degeneration and arefu...RNA molecule, which directs productionof the Usher syndrome protein, in the retina of the eye. "Since the predictedUsher protein has a physical structure simil...

Brain Antibodies Provide New Clues To Origins Of Tourette's

...fter a streptococcal infection. Tourette's syndrome affects approximately five in every 10,000 persons. Because it occurs with high frequency in some families and identical twins, agenetic error has long been suspected as a cause. "However, based on familystudies, it appears that for some individuals...

Williams Syndrome: New UD Study May Shed Light On Rare Genetic Disorder-And Normal Development

...nding the details of the cognitive profile in this syndrome will likelybe extremely complex," says Barbara Lan...hWilliams Syndrome. First recognized as a separate syndrome in 1961, it has onlybeen in the last 30 years that persons with Williams have been recognized as agr...

Alstrom Syndrome Genetics Studied At Jackson Laboratory

...abetes. There is no knowncure. Alström syndrome is a recessive genetic disorder. Parents who carry...uble dose" of the Alström gene explains whythe syndrome is so rare. Progress towards finding the molecular basis for the Alström gene at TheJack...

A New Gene For Mental Retardation

...ales with Autism. Although it is not certain, the syndrome observed inthese patients may result from the insertion of 4 amino acids into a regionof this newly discovered gene that may have a role in neurodevelopment.Further studies are in progress to understand the relationship of this newmutation to mental ...

Duke Study Helps Explain How Cells Divvy Up Genes During Reproduction

...mber of chromosomes, increasing the odds of Down's syndrome andother birth defects. Endow discovered the motor, called Ncd (nonclaret disjunctional), infruit flies, but similar motors operate in all animals, including people, shesaid. "Our hope is that by understanding how these molecular mot...

Evidence Mounts Against Maintstream Dogma In Embryology, Could Shed New Light On Neurological Defects

...as the zebrafish, but also in humans who develop a syndrome called holoprosencephaly. Some cases of holoprosencephaly have been found to result from mutations of the human sonic hedgehog gene. However, other chromosomal regions, including as yet unidentified genes, also produce very similar birth defects. F...

Tightly Controlled Protein Destruction Drives The Cell Cycle

...ndrome, and less common disorders such as Liddle's syndrome and Angelmansyndrome. A better understanding of ubiquitin-mediated proteolysis, therefore,could form thebasis for the development of new drugs to treat these and other diseases....

Researchers Identify And Isolate First Gene For A Form Of Insulin-Dependent Diabetes

... and vision problems, with eventual blindness. The syndrome also caninclude diabetes insipidus, a pituitary gland disorder associated with intensethirst and the need to excrete large amounts of urine. Some people with WolframSyndrome also lose their hearing. The disorder is caused by mutations in a s...

Researchers Link Gene Defects To The Course Of A Deadly Form Of Heart Disease

...l Center. The findings mean patients with Long QT syndrome will soon beable to learn whether they carry a def...onmedicine will take in the next century." Long QT syndrome is a genetic disorder that can stop its victims'hearts when they become excited. A telephone ring in...

NASA Using Space Incubator To Understand Breast Cancer

...ying a single defective ATM gene. The debilitating syndrome ataxia-telangiectasia (A-T) results when both of t... a course for expression of a devastating clinical syndrome called ataxia-telangiectasia, or A-T, which includes an approximately 100-fold increased risk of can...

New Hypothesis Proposed For Cause Of Chronic Fatigue Syndrome

...d a new theory for the cause of chronic fatigue syndrome (CFS) -- one that blames the illness both on a ...f the symptoms that you find in chronic fatigue syndrome are the same ones induced by cytokines during our normal immune response,” Glaser said. ...

New Form Of Inherited Dwarfism In Large Pakistani Family Caused By Genetic Mutation In A Pituitary Receptor

...re forthcoming. Dwarfism of Sindh, as this syndrome is now called, is the human geneticcounterpart to the little (lit/lit) mouse. This mouse also has a mutation in theGHRH-R, causing GHRH resistance, an underdeveloped pituitary, growth hormonedeficiency and a dwarfed body. The mouse also has decreased...

Biochemical Markers Could Help Identify Battered Children

...is is further evidence that victims of shaken baby syndrome can suffer morewidespread damage than those who receive blows to the head. Kochanek warns that levels of a single biochemical are unlikely ever togive a definitive diagnosis of whether or not a child has been abused. Butanalysed together wit...

Familial Cancer Syndrome Linked to Colorectal Cancer in Younger People

...istoryconsistent with a familial colorectal cancer syndrome known as hereditarynon-polyposis colorectal cancer (HNPCC), according to researchers at MemorialSloan-Kettering Cancer Center. The study, published in the current issue of Diseases of the Colon and Rectum,looked at 230 patients 40 years of age and ...

NYU And Rockefeller Scientists Design Molecules That Stymie A Notorious Bug

...nor skin abscesses to life-threatening toxic shock syndrome and otherillnesses. Antibiotics kill the bacterium, but in recent years the wily bugincreasingly has become resistant to the most commonly used antibiotics. Thedevelopment of antibiotic-resistant strains of Staph and other bacteria hascaused widespre...

Researchers Isolate Gene For Heart And Facial Defects

...diac and craniofacial structures. Because the syndrome includes a broad variety of defects and not allpat... that it isunlikely that CDC45 is involved in this syndrome because it is active in allcells. "This paper represents a unique combination of studies," sai...

In The Genes: Extra Belly Fat, Insulin Resistance Linked

...n some families, a condition that has been labeled syndrome x ormetabolic syndrome. Insulin resistance and obesity are considered cornerstonesof the syndrome. The researchers note that people shouldn't ignore the important influence ofdiet and exercise on health, however. Non-genetic factors appear to account...

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