Syndrome in Biological News

Measuring intellectual disability

... Journal of Molecular Diagnostics . Fragile X syndrome is the most common form of inherited intellectual ... one third of patients diagnosed with fragile X syndrome also have some degree of autism, and the mutation underlying fragile X syndrome is the most commonly known single gene cause of ...

Fate in fly sensory organ precursor cells could explain human immune disorder

... finding provides a model for how Wiskott Aldrich syndrome a form of selective immunodeficiency in children ... complex and its activator WASp (Wiskott-Aldrich syndrome protein) function in these daughter cells to ... syndrome. The patients with Wiskott-Aldrich syndrome have mutations in a gene called WASp. WASp is an ...

Preclinical work shows how one gene causes severe mental retardation

... all of which are quite abnormal in Angelman syndrome patients." The authors found that brains cells in Angelman syndrome mice lacked the ability to appropriately ... brain important for cognitive abilities. Angelman syndrome is one among a small family of single gene, ...

Drinking 100 percent fruit juice is associated with lower risk of obesity and metabolic syndrome

... and had lower risk for obesity and metabolic syndrome a cluster of conditions that increases risk for ... 100% juice drinkers, while risk for metabolic syndrome (defined as the presence of three or more of the ... 100% fruit juice consumption and metabolic syndrome was no longer statistically significant. However, ...

Research suggests vegetable juice may help people with metabolic syndrome lose weight

... daily may help overweight people with metabolic syndrome achieve better weight loss results. A study, ... but drank no juice lost one pound. Metabolic syndrome is defined by a cluster of risk factors including ... blood lipids. If left uncontrolled, metabolic syndrome increases risk for chronic diseases, such as ...

Case Western Reserve University receives $1.66m grant from NIH for otoprotection research

... ear dysfunction in Ushers syndrome. Usher syndrome (USH) is a clinically and genetically ... *There are about 10-15,000 people with Usher syndrome in the United States today and it accounts for 6 ... a new mouse deafness model (for Usher 1 syndrome and presbycusis or age-related hearing loss) that ...

New potential therapeutic target discovered for genetic disorder -- Barth syndrome

... discovered a new targeted intervention for Barth syndrome (BTHS). BTHS, a sometimes fatal disease, is a ... deficiency in the pathogenesis of Barth syndrome and identified an important enzyme in cardiolipin ... biology at NYU Langone Medical Center. BTHS syndrome is an X-linked genetic cardioskeletal muscle ...

Rett Syndrome Research Trust advisor makes significant discovery

... Dr. Mandel is a scientific advisor of the Rett syndrome Research Trust (RSRT) a recently formed nonprofit ... the development of treatments and cures for Rett syndrome and related MECP2 disorders. Rett syndrome strikes little girls almost exclusively, with ...

2 genes influence social behavior, visual-spatial performance in people with Williams syndrome

... work examining hundreds of cases with Williams syndrome and developing techniques and analyses to find ... adjunct professor. Korenberg has studied Williams syndrome for more than 15 years through a Program Project ... and Bellugi to the disorder. "Williams syndrome presents a unique lens for discovering the how ...

Mayo Clinic researchers suspect a novel gene is causing restless legs syndrome in a large family

... relieved by movement. Restless legs syndrome affects between 5 and 11 percent of the ... worked for his new patient, says Dr. Lin. "The syndrome may appear as a nuisance for most people, however ... Mayo Clinic Proceedings that the restless legs syndrome found in this family is likely due to a gene ...

Mayo Clinic: Brain disorder suggests common mechanism may underlie many neurodegenerative diseases

... a disorder known as Perry syndrome. Although this syndrome is exceedingly rare, the mechanism implicated in ... the researchers report that people with Perry syndrome have mutations in a subunit of the dynactin ... essentially had faulty brakes. And because Perry syndrome resembles many other neurodegenerative diseases, ...

Promising new drug being evaluated as possible treatment option for fragile X syndrome

... option for adult patients with Fragile X syndrome (FXS). Findings of the open label, single-dose ... in adult males and females with Fragile X syndrome showed there were no adverse side effects from ... of the drug in mouse models." Fragile X syndrome is the most common inherited cause of mental ...

Rare disease provides clues about enzyme role in arrhythmias

... in an extremely rare disease called Timothy syndrome and that inhibiting the enzyme prevents irregular ... for irregular heartbeat in people with this syndrome as well as in the general population. There also ... Nov. 10 by the journal Circulation . Timothy syndrome has been reported in only about 20 people ...

Irritable bowel syndrome can have genetic causes

... The causes of what is known as irritable bowel syndrome (IBS), one of the most common disorders of the ... "Currently, patients with irritable bowel syndrome are treated on a trial and error basis"", ... could explain why patients with irritable bowel syndrome often complain of severe pain although no ...

Green tea may delay onset of type 1 diabetes

... itself. Both type 1 diabetes and Sjogren's syndrome are autoimmune diseases, which cause the body to ... of the population, says Dr. Hsu. Sjogren's syndrome can occur alone or secondary to another ... he says. The next step is to observe Sjogren's syndrome in human salivary gland samples to determine ...

Circadian clock may be critical for remembering what you learn, Stanford researchers say

... with learning or memory deficits, such as Down syndrome or Alzheimer's disease. The work is described in ... retention. Research on people with Down syndrome has shown that one reason they don't perform well ... Studies on mice that exhibit symptoms of Down syndrome have demonstrated that when given PTZ, the mice ...

UCR researchers propose minocycline as a promising drug for patients with Fragile X syndrome

... skin infections, can be used to treat Fragile X syndrome , the most common inherited cause of mental ... The brains of patients with Fragile X syndrome have an overabundance of immature dendritic ... targets the underlying defect in Fragile X syndrome and not just the symptoms," Dr. Paribello said. ...

The Rett Syndrome Research Trust launches operations

... The Rett syndrome Research Trust, a newly established nonprofit ... next steps toward treatment and cures for Rett syndrome and the increasing range of MECP2 spectrum ... to clinical trials within five years. Rett syndrome is the most physically disabling of the autism ...

70 years old and going strong with Down syndrome and no dementia

... is almost a given for people with typical Down syndrome over 65 yeas of age. 'Mr. C', while remaining ... paints an optimistic picture for people with Down syndrome who are aging, and says that an ordinary person with Down syndrome ought to be able to make it to seventy, once you ...

UC Davis researchers define characteristics, treatment options for XXYY syndrome

... problems that are unique to patients with XXYY syndrome that may be better addressed with more targeted ... who treat patients with the disorder." XXYY syndrome is a sex chromosome anomaly that is thought to ... males in the general population. Boys with XXYY syndrome usually come to the attention of physicians ...

Researchers block damage to fetal brain following maternal alcohol consumption

... done at Texas A&M University. Fetal Alcohol syndrome Fetal alcohol syndrome is a condition in which maternal drinking during ... the fetal brain. Children born with fetal alcohol syndrome may have cognitive impairments and difficulty ...

The aorta is torn apart in the Marfan syndrome

... A severe complication of the Marfan syndrome is that the aorta may split and be torn apart. The patient can be protected if the syndrome is diagnosed and treated in good time. In the ... Marfan syndrome occurs at a frequency of between 1:5000 ...

How and where fat is stored predicts disease risk better than weight

... are on the road to developing metabolic syndrome unless they stop overeating. Sooner or later, it ... metabolic syndrome. The exact cause of metabolic syndrome is unknown, but obesity and lack of exercise have ... shown that overweight patients with metabolic syndrome have increased fat levels in their liver, heart ...

Gene dose affects tumor growth

... research team describes how trisomy 21, or Down syndrome in humans, can repress tumor growth. We took a ... 50-year-old debate about whether people with Down syndrome develop cancer less often than other people, says ... the genetic differences associated with Down syndrome has revealed a new way of thinking about ...

Too much fructose could leave dieters sugar shocked

... sugar-based foods and dont cause the metabolic syndrome like sugar-based foods, said Dr. Richard Johnson, ... for energy, leading to obesity, metabolic syndrome and type 2 diabetes, said Johnson, the division ... insulin resistance and features of the metabolic syndrome that other foods dont do so easily. About 33 ...

University of Pittsburgh cardiologists identify new cardiac arrest gene

... at http://circ.ahajournals.org/ Brugada syndrome is a rare inherited arrhythmia, which is more ... death. In about 20 percent of cases with Brugada syndrome patients, mutations in the hearts sodium channels ... 250,000 sudden cardiac deaths each year. Brugada syndrome was only identified approximately 15 years ago ...

Obesity-related hormone is higher in children with Down syndrome

... Children with Down syndrome are more likely than their unaffected siblings to ... The researchers studied 35 children with Down syndrome and 33 of their siblings. All of the children ... obesity occurred. The children with Down syndrome had significantly higher body mass index, a ...

Study identifies pathway required for normal reproductive development

... in the mice. . A form of IHH called Kallmann syndrome involves lack of both reproductive development ... genes of 100 study participants: 50 with Kallmann syndrome and 50 with IHH and a normal sense of smell. ... IHH with a normal sense of smell and Kallmann syndrome with no sense of smell had been considered two ...

UCI researchers restore memory process in most common form of mental disability

... identified how a mutated gene linked to fragile X syndrome blocks brain cells from locking new memories into ... proteins to the hippocampus region of fragile X syndrome test mice, memory-forming capacities of the brain ... suggest the possibility of fragile X syndrome therapies that allow for increased learning and ...

Restless legs syndrome affects nearly 2 percent of US/UK children

... Restless legs syndrome is a common problem in children 8 years of age ... This study suggests that restless legs syndrome is common and troublesome in children and ... Hospital in Urbana, Ill. Restless legs syndrome (RLS) is a neurological sleep disorder ...

Researchers identify proteins involved in new neurodegenerative syndrome

... appearance of fragile X-associated tremor/ataxia syndrome (FTAX), a late-life disorder associated with the gene that causes fragile X syndrome in children, said researchers from Baylor College ... of molecular and human genetics at BCM. Fragile X syndrome is the most common inherited form of mental ...

Scientists link fragile X tremor/ataxia syndrome to binding protein in RNA

... pathway that leads to fragile X tremor/ataxia syndrome (FXTAS), an inherited neurodegenerative disorder. ... of the journal Neuron. Fragile X tremor/ataxia syndrome was first recognized several years ago as a ... and mental and behavioral changes. Fragile X syndrome occurs when a region of the FMR1 gene repeats a ...

Abnormal fat metabolism underlies heart problems in diabetic patients

... Interestingly, a rare genetic disorder Barth syndrome held a key to identifying cardiolipin decrease in diabetic hearts. Children born with Barth syndrome have weak hearts and often die young from heart ... between cardiolipin and heart disease in Barth syndrome led the Washington University researchers to ...

Maternal, paternal genes' tug-of-war may last well into childhood

... genes -- Silver-Russell syndrome, Prader-Willi syndrome, and Temple syndrome -- place fewer demands on their mothers' resources. For example, ... syndrome, Prader-Willi syndrome, Temple syndrome, and Beckwith-Wiedemann syndrome is needed to more fully understand the role of genomic imprinting in such ...

NIH expands Human Microbiome Project; funds sequencing centers and disease projects

... College of Medicine, Houston Digestive tract: Pediatric Irritable Bowel syndrome (IBS) $750,000 This project will examine the composition of the intestinal microbiome and any possible connections with irritable bowel syndrome in children. Gary D. Wu, M.D., University of Pennsylvania School of ...

Chemical in blood may explain susceptibility to bladder pain

... those molecular profiles, which showed that blood from cats with the syndrome contained at least 20 percent more tryptophan and kynurenine than did ... plans to test human samples from patients diagnosed with irritable bowel syndrome and fibromyalgia to see if the same biomarker is associated with these ...

Scientists discover new genetic immune disorder in children

... of Medicine . The scientists have termed the new autoinflammatory syndrome DIRA (deficiency of the interleukin-1 receptor antagonist). Children with ... M.D., Ph.D. "Moreover, the unveiling of this novel autoinflammatory syndrome provides us with a tool to further dissect the role of interleukin-1 in ...

Mouse model provides a new tool for investigators of human developmental disorder

... April 21, 2009, Cambridge, UK Wolf-Hirschhorn syndrome (WHS) is a human disease caused by spontaneous genetic deletions. ... The report, "Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice" was written by Catarina Catela, ...

Frogs reveal clues about the effects of alcohol during development

... Fetal alcohol spectrum disorder (FASD) and Fetal alcohol syndrome (FAS) cause malformations in babies, including facial defects, short ... Fetal alcohol spectrum disorder (FASD) and Fetal alcohol syndrome (FAS) cause malformations in babies, including facial defects, short ...

Targeted drug therapy prevents exercise-induced arrhythmias

... boy bedridden for three years because of an inherited cardiac arrhythmia syndrome can now join his friends on the soccer field thanks to a discovery made ... exercise or stress, and are at risk for fainting and cardiac arrest. The syndrome kills up to 50 percent of untreated patients, and it may account for some ...