news archive May 2005

• Hydrolethalus Syndrome Is Caused By A Missense Mutation In A Novel Gene HYLS1
  The authors identified an HLS associated mutation in the HYLS1 gene.
  
• Novel Modifier Loci Of Aganglionosis In Hirschsprung Disease Identified
  Studies in HSCR families have identified RET-dependent modifiers for short-segment HSCR (S-HSCR).
  
• A Noisy Basis For Dyslexia
  Dyslexic children are much worse than non-dyslexic children at seeing visual signals through noise.
  
• New Strategy Makes Proteins A Better Drug Target
  Findings promise to considerably simplify the study of protein kinases.
  
• Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice
  The authors report a genetic flaw that markedly reduced the intracellular expression of the high mobility group A1 (HMGA1).
  
• Stat3 Is Required For ALK-Mediated Lymphomagenesis
  Stat3 provides a possible therapeutic target.
  
• Stiff Handling Of Genes
  The efficacy of materials for carrying genes into cells may be determined by their stiffness.
  
• Diverse Patterns Of Somatic Mutations In Human Breast Cancer Identified
  A previously hidden diversity of mutational processes may exist in breast cancer.
  
• A New Mechanism Behind Atherosclerosis
  Abnormal metabolism in arterial walls can cause atherosclerosis.
  
• Testicular Cancer Gene Identified
  Scientists identify a gene that causes testicular cancer in mice.
  

• Discovery of How Insulin Allows Entry of Glucose Into Cells
  Researchers from the National Institutes of Health have discovered the critical sequence of events by which insulin stimulates the entry of glucose into fat cells.
  
• Now Showing - Prion Proteins Invasion and Motility
  Scientists Observe for the first time how infectious prion proteins invade and move within brain cells.
  

• Human Cells Can "Silence" HIV Genes
  HIV protein, Tat, silenced by sequence-specific siRNA in human cells.
  
• Better Kidney Function Test to Predict Death and Cardiovascular Outcomes
  Cystatin-C is a better predictor of death and cardiovascular risk among the elderly than the creatinine.
  

• Disentangling Fetal And Maternal Susceptibility For Pre-Eclampsia
  The Genetics of Pre-Eclampsia (GOPEC) collaboration aims to identify genetic factors in U.K. families affected by pre-eclampsia.
  
• Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene
  Disturbances in blood levels of thyroid hormones suggest the possibility of systematic detection through screening of high-risk populations.
  
• Mapping Of A Single Locus Capable Of Complementing The Defective Heterochromatin Phenotype Of RS Cells
  Complementation of this abnormal cytogenetic phenotype was used as a means to identify a specific region of the normal human genome capable of rendering phenotypic correction.
  
• Brain Changes Over The Menstrual Cycle
  Report may provide a molecular basis for some of the hormonal fluctuations over the course of the menstrual (or estrus) cycle.
  
• Race-Related Brain Activity
  Report shows that the brain area called the amygdale, that is involved in emotional processing, is activated in response to pictures of same-race faces.
  
• Wiring The Brain For Depression
  Healthy carriers of a gene that increases the risk of depression have altered activity in brain circuits involved in emotion.
  
• Human Trial Shows Potential And Limitations Of Anti-HIV Antibodies
  A clinical trial in a small group of HIV-1 infected patients has provided the first direct proof in humans that antibodies can control the virus -- but only for a very short time.
  
• Stiff Handling Of Genes
  The efficacy of materials for carrying genes into cells may be determined more by their stiffness than by their chemical properties.
  
• Bacterial Trojan Horses
  New work identifies an important molecule to target against Brucella infections in both humans and animals.
  
• RNA Enzymes Use Acid
  Researchers show how a RNA molecule from the hepatitis delta virus (HDV) uses an acidic group to accelerate a chemical reaction central to its life cycle.
  
• Fat: The Big Picture
  Research identifies the network of genes required for early steps in the development of brown fat cells.
  
• Molecule That Induces Tumour Regression
  A promising approach to eliminate cancer cells is to trigger cell death (apoptosis) with inhibitors that bind to and block anti-apoptotic proteins that help keep cancer cells alive.
  
• Interactions Between Separate Chromosomes Might Control Gene Expression
  Physical interaction between chromosomes might play an important role in coordinating gene expression in the nucleus of higher organisms.
  
• Insulin Triggers Autoimmune Response In Diabetes
  Two groups of researchers provide convincing proof that insulin itself initiates the devastating autoimmune response associated with Type I Diabetes.
  
• New Disease/Phenotype Technical Standards And Guidelines Now Available On-Line
  Prenatal Screening for Down Syndrome, Open Neural Tube Defects, Venous Thromboembolism
  
• ACMG's Revised Guidelines For Cystic Fibrosis Population Carrier Testing
  Link to free copy of the guidelines is provided in this posted summary.
  

• International Team Determines Geographic Origin of Leprosy
  Leprosy likely originated in East Africa and spread to Asia and Europe before being imported into West Africa by explorers.
  
• Mouse Gene Accounts For Blood Abnormalities and Parkinson's Symptoms
  Iron Regulatory Protein 2(IRP2) knockout mice which develop develop Parkinson's -like symptoms also develop anemia and signs of a rare skin condition.
  

• MLC1 Gene may have a role in the aetiology of both schizophrenia and bipolar disorder
  Indian study finds associations with MLC1 polymorphisms and haplotypes
  

• Depression Gene May Weaken Mood-Regulating Circuit
  A brain scan study suggests that a suspect gene may increase susceptibility to anxiety and depression by weakening a circuit for processing negative emotion.
  
• Survival of Pathogenic Bacterium Inside Neutrophils
  A delay in apoptosis of human neutrophils allows bacteria enough time to multiply and cause infection.
  
• Excess Oxygen Worsens Lung Inflammation in Mice
  Oxygen therapy aimed at helping mice with acute lung inflammation breathe paradoxically worsened their illness.
  

• Method shows how precisely gene expression signals are copied in DNA replication
  A population-epigenetic model to infer site-specific methylation rates from double-stranded DNA methylation patterns
  
• Scientists Track 'Stealth' DNA Elements In Primate Evolution
  Alu elements are the most successful SINEs (Short INterspersed Elements) in primate genomes and have reached more than 1,000,000 copies in the human genome.
  
• Study Finds Possible Mechanism For Link Between Sleep Disturbances And Metabolic Syndrome
  A new mouse study suggests that a brain system that controls the sleep/wake cycle might also play a role in regulating appetite and metabolism.
  
• Obesity On The Brain
  Six articles in the May 2005 issue of Nature Neuroscience review the literature on the neurobiology of feeding regulation, and how it can go awry.
  
• New Research Shows How The (Gene) Chips Are Stacked
  Three studies reveal important new insights into how investigators can greatly enhance the quality and reliability of data obtained in experiments conducted with microarrays.
  
• Lumbar Disc Disease
  A genetic variation associated with susceptibility to lumbar disc disease, one of the most common musculoskeletal disorders, has been identified.
  
• Stem Cell Stability
  A potential barrier to the therapeutic use of human embryonic stem cells appears to be less of a concern than previously thought.
  
• New Stem Cell Population Identified In Muscle
  A new population of stem cells, present in skeletal muscle, is identified by two groups of researchers.
  
• Measurement Of Nuchal Translucency – Test For Prenatal Screening
  Measurement of nuchal translucency at 11-14 weeks is becoming a much sought after test for prenatal screening.
  

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