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Familial in Biological News

Scientists discover gene mutation responsible for hereditary neuroendocrine tumor

... of paragangliomas are hereditary. Of the four familial PGL syndromes, three forms have previously been ... potential clinical implications for patients with familial PGL syndromes. Genetic testing is suggested for ... risk for developing tumors. "Individuals with familial PGLs tend to be affected at a younger age with ...

Computational model examines the pathways of Alzheimer's that strikes at the young

... Alzheimer's does not only affect the elderly. familial Alzheimer's disease (FAD), an offshoot of the ... of Presenilin-1 and Glycogen Synthase Kinase-3 in familial Alzheimer's Disease. They will present their ... presenilin-1 (PS1) (a mutated gene found in familial AD) and glycogen synthase kinase (GSK-3) (a ...

Computational model examines the pathways of Alzheimer's that strikes at the young

... Alzheimer's does not only affect the elderly. familial Alzheimer's disease (FAD), an offshoot of the ... of Presenilin-1 and Glycogen Synthase Kinase-3 in familial Alzheimer's Disease. They will present their ... presenilin-1 (PS1) (a mutated gene found in familial AD) and glycogen synthase kinase (GSK-3) (a ...

Genetic mutation causes familial susceptibility for degenerative brain disease

... the children's families, which had histories of familial or recurrent ANE, also carried the same mutation, ... said it accounted for 75 percent of the cases of familial or recurrent cases in the current study, showing ... from 16 families of European descent affected by familial or recurrent forms of the disease. In one ...

Jefferson Department of Surgery announces new pancreas tumor registry

... The JPTR modeled after the National familial Pancreas Tumor Registry is a longitudinal study ... an increased risk of pancreatic cancer, including familial breast-ovarian cancer, familial ...

Gene variant increases breast cancer risk

... known as BRCAI and BRCAII are a major cause of familial breast cancer these are responsible for roughly ... of such cases. In Germany, 75 percent of familial breast cancers are not attributable to mutations ... In collaboration with the German Consortium for familial Breast and Ovarian Cancers, the research team ...

Stem cell 'daughters' lead to breast cancer

... rather than breast stem cells." Dr Lindeman, who also heads the familial Cancer Centre at the Royal Melbourne Hospital, said that now the ... by the Kathleen Cuningham Foundation Consortium for Research into familial Breast Cancer. ...

UMMS researchers isolate first 'neuroprotective' gene in patients with amyotrophic lateral sclerosis

... a team of researchers led by Dr. Brown discovered the first gene linked to familial ALS, a protein anti-oxidant known as superoxide dismutase, or SOD1. ... ALS cases. There are only four genes known, that when mutated, cause familial ALS. The KIFAP3 gene variant is the first to be linked with the rate of ...

Researchers identify specific lung cancer susceptibility gene

... researchers identified RGS17 as a major candidate susceptibility gene for familial lung cancers. Research has shown that lung cancer can occur ... additional research to investigate how environmental factors may influence familial cancer development. ...

International study identifies gene variants associated with early heart attack

... and disability in the U.S. clusters in families and that some of this familial clustering is due to differences in DNA sequence," says Sekar Kathiresan, ... polomorphisms (SNPs), that may be responsible for an increased familial risk for heart attack." Groundwork for the current study was laid more ...

UT Southwestern researchers identify gene linked to inherited form of fatal lung disease

... one in 50 IPF patients have an inherited form of the disease. It is this familial form of the disease that Dr. Garcia her colleagues are focused on. ... either of these two genes can be found in almost 15 percent of those with familial IPF. Up to 40 percent have short telomere lengths and evidence of ...

Inherited genetic cause, possible treatment found for complex lung disorder

... two sisters has helped researchers solve a medical mystery and discover a familial genetic mutation that causes an inherited form of the lung disease ... and the report's senior author. "This is the first data to demonstrate familial PAP in humans and the critical role of the gene CSF2RA to balanced ...

Genetics of ALS progression

... 5-10 percent of all ALS cases are inherited. About 20% of these familial ALS cases are the result of an inherited genetic mutation on chromosome ... prolong survival in a mouse model of inherited ALS. Although not all familial ALS cases are due to the SOD1 mutation (and not all persons with a mutated ...

Women often opt to surgically remove their breasts, ovaries to reduce cancer risk

... counseling, testing and management program," said Claudine Isaacs, M.D., an associate professor of medicine and co-director of the Fisher Center for familial Cancer Research, Lombardi Comprehensive Cancer Center at Georgetown University. BRCA1 and BRCA2 mutation carriers have a very high lifetime risk ...

Researchers gain insight into mechanism underlying Huntington's

... manner they occur," Li said. "How these genetic changes escape normal DNA repair systems and become ingrained in an affected gene pool leading to familial disorders has been a longstanding subject of study in my laboratory at the UK Medical Center." The expansion of TNRs at unique sites in the human ...

First comprehensive guidelines for managing medullary thyroid carcinoma published in Thyroid journal

... members." MTC is a complex disease that accounts for about 4% of all thyroid cancer cases in the United States. Nearly 25% of cases worldwide are familial and present as an autosomal inherited disorder. In individuals with the inherited form of MTC, a preneoplastic lesion called C-cell hyperplasia will ...

Zebrafish provide a model for cancerous melanoma in humans

... in these signals as do humans. Zebrafish that were born from the original mutant fish displayed abnormal growth of their melanocytes, reminiscent of familial atypical mole and melanoma syndrome (FAMM) seen in humans. By producing other signaling molecules in the mutant fish, the researchers were able to ...

Damon Runyon Cancer Research Foundation awards prestigious fellowships to 13 top young investigators

... Stephen J. Elledge, PhD, at Brigham and Women's Hospital, Boston, Massachusetts, is studying the role of the BRCA1 gene, which has been linked to familial breast cancer. His goal is to identify genes that act in concert with BRCA1, which could explain the specific effect of BRCA1 mutations on breast ...

Statins may treat blood vessel disorder that can lead to fatal strokes

... said. "Their success illustrates the importance of encouraging teams of scientists and physicians across institutions and disciplines to target familial stroke diseases such as cerebral cavernous malformations." ...

Studies point to novel target for treating arrhythmias

... because we believe that we have identified a novel mechanism that renders the heart susceptible to arrhythmias and a new therapeutic target for familial hypertrophic cardiomyopathy and other arrhythmia syndromes." The first author of the current report, Franz Baudenbacher, Ph.D., assistant professor ...

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

... Perry syndrome shares with other neurodegenerative diseases. Perry mutations in DCTN1 are physically very close to a mutation previously reported in familial motor neuron disease, they say. The deposits of TDP43 are also the same as found in motor neuron disease and in some forms of frontotemporal ...

Mayo: Variants in gene on X chromosome associated with increased susceptibility to Alzheimer's

... adhesion and signaling in the central nervous system. Some evidence suggests that protocadherins are processed by presenilins linked to early-onset familial forms of Alzheimer's disease, the researchers say. "The goal now will be to conduct further studies of this gene to determine the precise ...

A scientific breakthrough on the control of the bad cholesterol

... and stroke. Mutations of human genes have demonstrated that a rise in PCSK9 activity results in a major increase in LDL-cholesterol and familial hypercholesterolemia. Conversely, in people with a non-functional mutation in the gene coding for PCSK9, a decrease in its activity brings down the ...

New research helps explain genetics of Parkinson's disease

... ). Loss-of-function mutations in the gene Park2, which encodes an E3 ubiquitin ligase (Parkin), are implicated in half the cases of recessive familial early-onset Parkinson's disease. Several lines of evidence suggest that Parkin loss is associated with mitochondrial dysfunction, but exactly how was ...

Study looks at psychological impact of gene test for breast cancer

... breast cancer risk. However, she may still be at increased risk because of unrecognized mutations, or because of other risk factors associated with familial breast cancer. Of women in the study with inconclusive results, about half were still considered to have more than a 30 percent residual risk of a ...

'1-hit' event provides new opportunity for colon cancer prevention, say Fox Chase researchers

... for preventive and therapeutic drugs a chance to strike at cancer before a second hit can happen." The Fox Chase researchers studied patients with familial adenomatous polyposis (FAP), an inherited disorder that also serves as a classic model in support of the two-hit hypothesis. Patients with FAP, which ...

NYU Langone Medical Center's tip sheet to the International Conference on Alzheimer's Disease 2008

... were among the first to characterize amyloid, the plaque-forming protein implicated in Alzheimer's, and the first to describe a genetic mutation in a familial form of the disease. They also developed the first successful intervention program to reduce the need for placing patients in nursing homes and ...

The Parkinson's Disease Foundation awards $950,000 in seed grants

... in certain protective antioxidant enzymes, such as superoxide dismutase, in combination with mutations in the genes DJ-1 and Parkin (linked to familial PD), will experience progressive loss of dopamine neurons and other features of PD. In research of potential treatments, it is important not only ...

Second genetic link to weight and obesity

... 3.8 kg (or 8.5 lb) heavier. The variants map close to a gene called MC4R: mutations in this gene are the most common genetic cause of severe familial obesity. The study highlights the power of large collections of volunteer samples to uncover common variants that influence health. "By working ...

Genetic variants of USF1 are associated with the increased risk for cardiovascular disease

... to CVD risk factors, atherosclerosis, and incidence and prevalence of CVD. USF1 gene was first identified in Finnish families ascertained for familial combined hyperlipidemia, a common dyslipidemia predisposing to coronary heart disease. The gene encodes a ubiquitously expressed transcription factor ...

Excellence in open access research celebrated at BioMed Central awards dinner

... new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report' Journal of Medical Case Reports BioMed Central Publisher Matthew Cockerill said We are delighted ...

U of M research finds disordered eating less common among teen girls who regularly eat family meals

... role in the development of disordered eating behaviors. Girls also may be more sensitive to, and likely to be influenced by, interpersonal and familial relationships present at family meals than adolescent boys. Given the findings of this and other studies and the prevalence of disordered eating ...

Biophysical Society announces winners of 2008 Student Travel Awards

... Pia Guinto, Albert Einstein College of Medicine, in Silico and in vitro Characterization of Cardiac Troponin T Mutations Known to Cause familial Hypertrophic Cardiomyopathy. Nicholas R. Guydosh, Stanford University, Direct Observation of Individual Head Motions in Kinesin Dimers. ...

Journal Sleep: Insomniacs are more likely to report a family history of the sleep disorder

... Beaulieu-Bonneau. The overall 35 percent rate of first-degree relatives identified with insomnia lends additional support to the potential role of a familial predisposition to insomnia. More importantly, the presence of a past history of insomnia, either with or without current insomnia, emerged as a new ...

Brain pattern associated with genetic risk of obsessive compulsive disorder

... family members have distinctive patterns in their brain structure. This is the first time that scientists have associated an anatomical trait with familial risk for the disorder. These new findings, reported today in the journal Brain, could help predict whether individuals are at risk of developing ...

Science casts doubt on famous British murder case

... more stable in aged tissue and is easier to retrieve. Also, mitochondrial DNA remains relatively undiluted through generations, offering a reliable familial match. Forans laboratory has devised methods to extract and isolate mitochondrial DNA. Unable to break through the sap seal, he chipped away at ...

Study finds that even aloof husbands have lower testosterone levels than unmarried men

... They do not marry and have children until around 30, and, the researchers suggest, value social bonds with male peers more than spousal bonds or familial bonds. These findings add to the cross-cultural scope of published data on the topic of human pair bonding, parenting and testosterone, explain ...

Three-way mating game of North American lizard found in distant European relative

... we find more opportunities to adopt the role of aggressor, cooperator, or deceiver. "We play games along an economic axis, a reproductive axis, a familial axis, a political axis. We've constructed all this complexity around ourselves," Sinervo said. Systems with more than three competing strategies ...

'Kissing cousins'

... the support of their family members after marriage, which enhances their position in the domestic unit. Among populations with a high level of familial endogamy, there may also be a relatively high risk of recessive disorders which develop in childhood. However, the children of Bedouin first-cousin ...
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