familial

Deficient DNA Repair Capacity Associated With Increased Risk Of Breast Cancer

...rker to identify high-risk subjects, especially in familial breast cancer families," the authors write. "It is unclear at this time whether there are any interventions that could alter DNA repair capacity and what effect such interventions might have on risk." In an editorial, Marianne Berwick, Ph.D., M.P.H....

Neuronal 'traffic jam' marks early Alzheimer's disease

...plaque deposition. "So, our hypothesis is that in familial Alzheimer's disease -- or in disorders such as Down syndrome where beta-APP is overexpressed -- those defects cause early failure in cellular transport," he said. "And those failures then stimulate further production of A-beta peptide, which may furt...

Scientists detect probable genetic cause of some Parkinson's disease cases

...nowing that this mutation is not only important in familial forms ofdisease, but in typical sporadic disease, where there is no strongfamily history, could lead to earlier detection of Parkinson's disease.Further study of how this gene works also might help scientistsidentify new treatments."In addition to Dr...

Mitochondrial DNA mutations play significant role in prostate cancer

...heritedfrom your mother, so this may explain those familial cases that are notpassed from father to son, but rather through the unaffected mother toher sons."...

Important discovery about second most fatal cancer

...o are not members of high-risk families. Although familial - or inherited - forms of cancer are uncommon, they are of major importance for three reasons, says Dr. Jass: 1. Such cancers often occur in young subjects and result in loss of many years of life. An appreciation of the problem can lead to cancer p...

Researchers Identify Cause of Early Bird Sleep Disorder

...nced today. This odd "time-shift" trait -- called familial advanced sleep phase syndrome (FASPS) -- was studied in one affected family by neurologist Louis J. Ptacek, a Howard Hughes Medical Institute researcher, and Ying-Hui Fu, at the University of California, San Francisco. Their report appears in the Mar...

Researchers make headway in mystery of migraines

...A number of mutations have been shown to result in familial migraines," says Dr. Rhoda Blostein--a medical scientist at the Research Institute of the MUHC, professor in the Department of Medicine and Biochemistry at McGill University, and author of the new study. "Discovering genetic mutations that cause dise...

Rodent social behavior encoded in junk DNA

...cades-old scientific quest for the neural basis of familial behavior begun at the NIMH Intramural Research Pro...al encounters facilitates social behavior. If such familial traits are adaptive in a given environment, they are passed along to future generations through natu...

Image of myosin-actin interaction revealed in cover story of Molecular Cell

... way a single amino acid change in myosin leads to familial hypertrophic cardiomyopathy (FHC), an undetectable condition resulting in death by sudden cardiac arrest in otherwise healthy young adults. Contributors to this work include: Niels Volkmann, Ph.D., assistant professor and first author on this public...

Researchers map of genetic variations implicated in disease

... example, the MHC accounts for at least 30% of the familial aggregation in type 1 diabetes and rheumatoid arthritis. "Data generated by projects such as the MHC Haplotype Project will feed into the recently announced Wellcome Trust Case-Control Consortium," explained Professor John Todd, Professor of Medical...

Key heart and Alzheimer's disease protein imaged for first time in native state

...ciated with 40-60 percent of cases of sporadic and familial Alzheimer's. Everyone inherits two copies, or alleles, of every gene, one from each parent, Weisgraber explains. As the number of apoE4 alleles increases from 0 to 2, the risk of AD increases from 20 to 90 percent, and the typical age of onset decr...

US woman gives birth to baby from world's first frozen donor egg bank

... family they have been longing for. Women select a familial "match" from the donor eggs in the bank, and the eggs are shipped anywhere in the world to be thawed, fertilized and transferred as an embryo to the waiting woman who wishes to experience the pregnancy and birth of her baby. "We're very happy this t...

New human retrovirus originated in mice

...rman and his colleagues provided samples of a rare familial prostate cancer in which the viral-defense gene, R.... "First, the genetic variant we studied occurs in familial clusters that constitute only a very small sliver of prostate cancers," he said. "And secondly, ther...

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

...o a report in the May 19, 2006 Cell. The disease familial cylindromatosis results from the loss of a gene called CYLD, causing tumors known as cylindromas to develop in hair-follicle cells. Earlier studies indicated a role for CYLD in inflammation, but the mechanism behind the gene's control over tumor grow...

Inheritance outside DNA

...atistically with individuals who have personal and familial histories of colorectal cancer. Turning to mice that modeled the loss of IGF2 imprinting, Feinberg found an increase in frequency of tumors in mice who also had mutations in a cancer-associated gene called Apc. In the mutant Apc mice, the loss of IGF...

Chromosomal microarray analysis proves accurate

...he parents can often determine if this is a normal familial variation or a disease-causing one....

Gene that makes people 'early to bed and early to rise' demystified

...ly to bed and early to rise," a condition known as familial advanced sleep phase syndrome (FASPS), offered one of the first glimpses into the genetic basis of sleep in humans. Now, researchers report in the Jan. 12, 2007 issue of the journal Cell, published by Cell Press, new evidence that helps to explain ju...

Protein overexpression at heart of heart failure

...s have been made in a minority of cases, e.g.: the familial forms. Intracellular [Ca2+]i homeostasis is essential for normal cardiac function and integrity, and dysregulation of [Ca2+]i is a hallmark of advanced heart failure.2 The primary trigger for cardiac [Ca2+]i transients is calcium entry through the po...

Gene elevating breast cancer risk also causes prostate cancer

... cent of all cases of breast cancer. The two major familial breast cancer susceptibility genes BRCA1 and BRCA2...tudied patients, most of whom turned out to have a familial pattern of disease development. The study also involved 141 unselected male breast cancer patients, ...

CU study reveals why starling females cheat

...hicks. By helping the chicks survive, they pass on familial genes. In contrast, some females cheat with males outside their group if they sense their mates are too genetically similar to themselves. Mating with strangers increases their brood's genetic diversity, even though it does not reap additional hel...