UT Southwestern researchers identify gene linked to inherited form of fatal lung disease
DALLAS Dec. 19, 2008 Researchers at UT Southwestern Medical Center have determined that a mutation in a gene known for its role in defending the lungs against invading pathogens is responsible for some inherited cases of a lethal lung disease affecting older adults. The same mutation may also be...Researchers compile 'molecular manual' for 100s of inherited diseases
An international research team has compiled the first catalogue of tissue-specific pathologies underlying hundreds of inherited diseases. These results provide information that may help treat conditions such as breast cancer, Parkinson's disease, heart disease and autism. The report from scientis...Sibling study could lead to better treatments for inherited form of colon cancer
SALT LAKE CITYResearchers at Huntsman Cancer Institute (HCI) believe they may be one step closer to understanding how certain forms of colon cancer develop. In a study using siblings who have been diagnosed with colon cancer, scientists discovered similarities on a region of a particular chromo...Multi-institutional study identifies new form of inherited risk of cancer
NEW YORK (March 25, 2008) -- Like the subtext of a novel, the human genome sequence harbors more information than appears just in its "letters" of A, C, T and G. Since DNA is a data-packed molecule passed from generation to generation, comparing genome sequences among individuals also holds clues ...Mutation may cause inherited neuropathy
Mutations in a protein called dynein, required for the proper functioning of sensory nerve cells, can cause defects in mice that may provide crucial clues leading to better treatments for a human nerve disorder known as peripheral neuropathy, which affects about three percent of all those over age...CU-Boulder worm study sheds light on human aging, inherited diseases
Microscopic worms used for scientific research are living longer despite cellular defects, a discovery that is shedding light on how the human body ages and how doctors could one day limit or reverse genetic mutations that cause inherited diseases, according to a new University of Colorado at Boul...CSHL scientists discover a new way in which epigenetic information is inherited
Hereditary information flows from parents to offspring not just through DNA but also through the millions of proteins and other molecules that cling to it. These modifications of DNA, known as "epigenetic marks," act both as a switch and a dial they can determine which genes should be turned on o...Researchers discover inherited mutation for leukemia
Researchers have discovered the first inherited gene mutation that increases a person's risk for chronic lymphocytic leukemia (CLL), one of the most common forms of the disease. The study shows that the inherited mutation greatly reduces the gene's protective activity. Furthermore, a second kin...Early-stage immune system control of HIV may depend on inherited factors
How well an individual's immune system controls HIV during the earliest phases of infection appears to depend on both the specific versions of key immune-system molecules called HLA Class I that have been inherited, as well as on the fragments of viral protein those molecules display to the T lymph...Origin of inherited pain disorder pinpointed
The genetic basis for a rare inherited disorder that causes severe burning pain with no warning has been pinpointed by researchers. They found that paroxysmal extreme pain disorder (PEPD) is caused by specific mutations in porelike sodium channels in peripheral nerve cells—a discovery that they sai...Cell therapy slows progression of an inherited neurological disease; Improves motor skills in mice
In an important discovery, scientists have demonstrated that the progression of a type of genetic brain disease is slowed and symptoms are improved in mice that received cell transplants. The new study, published in the March 22 issue of The Journal of Neuroscience , may have implications for de...New Therapeutic Target Identified In Inherited Brain Tumor Disorder
With preliminary results from a study in Botswana, Harvard School of Public Health researchers have found that people with HIV-1 subtype C in resource-poor settings, who receive antiretroviral (ARV) therapy, can achieve comparable results to those in the developed world. A fully supported health ca...Defective Gene Linked to Two Inherited Immune Deficiencies
Defects in a single gene can result in two immune system disorders that leave affected individuals vulnerable to frequent or unusually severe infections, according to new findings reported in the August issue of Nature Genetics. The discovery may lead to new diagnostic tests for these two inherited...Gene therapy cures inherited liver disease in rats
A single dose of gene-virus combination cured rats of a inherited liver disease in which lack of a gene causes the accumulation of bilirubin –which, untreated, results in jaundice and brain damage, said researchers at Baylor College of Medicine in a report in the Proceedings of the Natural Academy ...Tendency to hair loss inherited from the mother
It begins with receding hairlines, the forehead becomes higher, the hair at the back of the man's head gets thinner and thinner. Every second man suffers from greater or lesser hair loss. There are hardly any successful counter-measures ?despite an enormous range of obscure lotions and tinctures. ...Genetic therapy reverses nervous system damage in animal model of inherited human disease
By injecting a therapeutic gene directly into the brain, researchers have treated a naturally occurring genetic disease in cats. This is the first genetic disease affecting the central nervous system to be successfully treated in an animal larger than mice and rats. If this approach can be successf...Gene Therapy Cures Inherited Liver Disease In Rats
A single dose of gene-virus combination cured rats of a inherited liver disease in which lack of a gene causes the accumulation of bilirubin –which, untreated, results in jaundice and brain damage, said researchers at Baylor College of Medicine in a report in the Proceedings of the Natural Academy ...NIH stimulus funding supports Emory biomedical scientists
...ve hemophilia. If it clots too easily, embolisms, heart attacks or strokes can occur. Understanding blood-clotting proteins can improve treatments for inherited hemophilia and cardiovascular disease. This study looks at one particular clotting protein, factor VIII. Biomarkers for Alzheimer's via magnetic re...Abnormal brain circuits may prevent movement disorder
...ually pave the way towards new treatments for dystonia patients. There are half a million people in the United States alone. The brains of people with inherited dystonia are normal at autopsy and the exact cause of their movement abnormality is unknown. David Eidelberg, MD, the senior author of the study p...Understanding how weeds are resistant to herbicides
...med that they were resistant and then we started crossing a resistant plant with a sensitive plant. We look at its progeny to see if the resistance is inherited to understand the genetics if it's a dominant trait or a recessive trait. "Pyrosequencing is more like just throwing out a fishing net -- we know ...Cancer's distinctive pattern of gene expression could aid early screening and prevention
...netic changes actually are more common than the genetic mutations long known to put people at risk for cancer and other diseases and they are probably inherited as well, Dr. Bhalla says. The early and apparently significant role of epigenetics in cancer has made the field a focal point for centers such as ...Scientists track impact of DNA damage in the developing brain
...d spinocerebellar ataxia with axonal neuropathy (SCAN1). Both disorders are inherited and are characterized by progressive difficulty with walking and other movement. AOA1 is among the most common form of certain inherited movement disorders in Japan and Portugal. McKinnon said those reports spark...Scientists discover gene mutation responsible for hereditary neuroendocrine tumor
...egion of the protein. Of the 45 individuals within the affected lineage who inherited the mutation, 33 have developed PGL2, providing strong evidence that hSDH5 is the PGL2 gene. The seven individuals who inherited the mutation from their mothers are unaffected, suggesting an inheritance p...Life on Earth came from other planets
...ncestral and genetic history had been confined to Earth and the conditions of this world. Microbes are preadapted for traveling through space and they inherited these abilities from the microbes which first took root on Earth and whose ancestry can be traced back to the solar system of the parent star. B...New test can detect both genetic and chromosomal abnormalities in embryos
...ldren already affected by a disease, and comparing their sequence with that inherited by the embryo. This can be achieved very rapidly using current microchip te...if it matches a chunk of DNA from the embryo, then they know the embryo has inherited the mutation. As karyomapping involves analysing chromosomes, it also detec...Single thawed embryo transfer after PGD does not affect pregnancy rates
...mpower fertility centres to include PGD cycles for inherited genetic disorders in their efforts to reduce the m...applied a single embryo transfer policy to PGD for inherited genetic disorders because of concerns about how we...plus blastocysts to couples seeking PGD for single inherited genetic disorders such as cystic fibrosis. All the...New MRI technique could mean fewer breast biopsies in high-risk women
... classifying a lesion as malignant or benign. The American Cancer Society recommends that women with certain breast cancer risk factors including inherited genetic mutations, family or personal history of breast cancer, or previous radiation therapy to the chest receive an annual MRI screening in additio...Female human embryos adjust the balance of X chromosomes before implantation
...omosome in every cell a process known as X chromosome inactivation (or XCI). In mice, XCI occurs before embryo implantation when the X chromosome inherited from the father is turned off, while the maternal X chromosome remains turned on. As the cells carry on dividing and reach the blastocyst stage, the c...Further gene mutations linked to autism risk
... common and rare, may be interacting to cause the heterogeneous group of disorders included under autism spectrum disorders. "We are finding that both inherited and new, or de novo, genetic mutations are scattered throughout the genome, and it is becoming clear that different combinations of these variations c...Scripps Research scientists observe human neurodegenerative disorder in fruit flies
... drugs to treat the disease. Named for the three physicians who first identified the disease in 1886, Charcot-Marie-Tooth is one of the most common inherited neurological disorders in the United States today. When people have this disease, some lose the protective covering on their nerves called myelin. Thi...Measuring intellectual disability
...tal retardation 1 protein," appears in the July 2009 issue of the Journal of Molecular Diagnostics . Fragile X syndrome is the most common form of inherited intellectual impairment. Nearly one third of patients diagnosed with fragile X syndrome also have some degree of autism, and the mutation underlying ...Protein that triggers plant cell division revealed by researchers
...in both the nucleus and in a small region out near the periphery in cells that were about to divide asymmetrically. After the division, only one cell inherited BASL at the cell periphery and this helped the two daughter cells become different. What's more, it wasn't just the stomatal cells that could ...Scientists discover new genetic immune disorder in children
...r genetic abnormalities, their suspicions were confirmed, and ultimately abnormalities were found in a number of other cases. All the children had inherited mutations in IL1RN, a gene that encodes a protein known as interleukin-1 receptor antagonist (IL-1Ra). IL-1Ra binds to the same cell receptors as the ...First comprehensive guidelines for managing medullary thyroid carcinoma published in Thyroid journal
...tes. 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 first de...Comprehensive cardiogenetic testing for families of sudden unexplained death victims can save lives
...aid that, although his team's research showed that inherited heart disease was present in over 30% of the famil...ee relatives of these SUD patients might reveal an inherited heart disease", said Dr. van der Werf. In the la...d clinical abnormalities. The researchers found inherited heart disease in 36, or 32% of the families. These...100 reasons to change the way we think about genetics
... and Gal Raz, both of Tel-Aviv University in Israel. Their article outlines inherited epigenetic variation in bacteria, protists, fungi, plants, and animals. ...ongera trait that was passed on to descendants. Generation after generation inherited slightly longer necks, and the result is what we see in giraffes today. ...UMMS researchers isolate first 'neuroprotective' gene in patients with amyotrophic lateral sclerosis
...se, or SOD1. Earlier this year, Dr. Brown and his colleagues discovered a mutation in the FUS/TLS gene which is estimated to account for 5 percent of inherited 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 ...New insight into Alzheimer's disease pathology
...ww.jcb.org . The protein, called presenilin, is mutated in many cases of inherited Alzheimer's disease. Although the inherited form of Alzheimer's is relatively rare, researchers hope that by studying t...Small molecules might block mutant protein production in Huntington's disease
...formation in cells is "translated" from DNA to make proteins, which carry out vital biological functions. Huntington's and Machado-Joseph are fatal inherited diseases caused by abnormal repeats of a small segment in a person's DNA, or genetic code, represented by the letters CAG. These mutations result in t...