Articles tagged with Genetic Disorders
Lafora disease is characterized by abnormal glycogen metabolism, with the accumulation of starch-/glycogen-like granules in most tissues. Researchers at UCSD have identified malin's role in the disease, revealing a testable model for its molecular mechanism.
The Rush University Medical Center has been designated as the first HDSA Center of Excellence in Illinois, providing a range of medical and social services to Huntington's disease patients. The center will also explore the creation of a regional network of care providers, including end-of-life care.
Researchers at Wake Forest University School of Medicine have found that the liver is the main source of high-density lipoprotein (HDL), or 'good' cholesterol. This discovery could lead to new treatments for raising HDL levels, particularly in individuals with less severe cholesterol disorders.
A US-India research team has completed an analysis of the X chromosome, identifying 43 new gene structures that encode proteins. The study, published in Nature Genetics, used a novel approach that compared human and mouse protein sequences to reveal previously unknown genes linked to X-linked mental retardation syndromes.
Scientists find that a region near the head of the ataxin-3 protein counterbalances toxicity caused by excessive polyglutamine repeats, potentially offering a therapeutic solution for Machado-Joseph disease and related disorders. The study suggests that removing or altering this region can accelerate disease progression.
The study found that one gene, Eda, controls the armor-plating trait in stickleback fish, which evolved rapidly after ocean fish colonized new environments. This suggests that evolution can occur quickly with just a few genes changing slightly, allowing newcomers to adapt and populate new habitats.
Researchers identified a common genetic mutation, JAK2, in patients with polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. The study used high-throughput DNA sequencing analysis to compare blood and mouth-swab samples from 164 PV patients, 115 ET patients, and 46 MMM patients.
Scientists have identified several genes that appear to be switched on by lithium, which may lead to the development of more effective treatments for bipolar disorder. The study found that one gene, GPR88, is associated with a rat model of mania and codes for an orphan receptor that could potentially target dopamine signaling.
A new diagnostic test is being developed to target a range of blood disorders by detecting a single point mutation in the JAK2 gene. The mutation was found in virtually all patients with polycythaemia vera, as well as half of those with essential thrombocythaemia and idiopathic myelofibrosis.
Researchers have identified abnormal brain tissue associated with cognitive impairments in children with chromosome 22q11.2 deletion syndrome. The study found structural abnormalities in the posterior parietal lobe, a critical area for visual-spatial and numerical processing.
The 21st-century model of healthcare focuses on the family before and after genetic testing, clustering genomic disorders based on similar patterns of psychosocial demands. This approach incorporates key disease variables to inform effective treatment interventions.
Researchers developed a new technique to detect fetal single gene disorders using analysis of circulatory fetal DNA in maternal plasma. The approach has been shown to be accurate and cost-effective, making it suitable for screening at-risk pregnancies in developing countries.
Researchers at Duke University Medical Center have identified a gene defect that causes Charcot-Marie-Tooth disease, a prevalent and inherited nerve disorder. The discovery provides new insights into the nervous system and may lead to the development of targeted therapies for this debilitating disease.
Researchers at Mayo Clinic have identified a new form of muscular dystrophy in adults, linked to specific gene mutations that can be targeted for treatment. The study combines laboratory and clinical data to provide a deeper understanding of the disease process and its genetic basis.
A gene that causes severe fat deficiency is also found to promote obesity in mice, according to new research. The protein affects body weight by altering fat storage and metabolism, with excess levels leading to increased body weight and changes in energy expenditure.
A new genetic mutation on the LRRK2 gene is responsible for 5% of inherited Parkinson's disease cases, with patients having longer disease duration but less severe symptoms. The discovery has a broad implication for genetic screening for the disease, highlighting the need to include studies of the LRRK2 gene in future testing.
Scientists studying prion diseases in mice found that preventing cell death does not stop the progression of neurological symptoms. Damage to synapses, critical for nerve cell communication, is instead linked to the disease.
A unique three-year project found that genetic screening can lead to uncertainty and anxiety among individuals at risk, while those with symptoms face difficulties in diagnosis and treatment. Researchers call for urgent attention from health policymakers to address these issues and ensure accessible care.
A study found that individuals with the G variant of the OPRM1 gene have a greater likelihood of experiencing stronger subjective feelings from alcohol and a higher risk of developing alcohol-use disorders. This genetic difference affects how the brain responds to endogenous opiates, influencing motivation and reinforcement.
Researchers found a mutation in the LRRK2 gene that plays a central role in developing Parkinson's disease and other neurodegenerative disorders. The discovery has major implications for understanding mechanisms of these diseases and potentially leading to curative treatments.
Researchers discovered a complete deficiency in the CD3 epsilon chain of the T cell receptor causes SCID, leading to normal B cells but no T cells development. The absence of this chain blocks T cell development at a specific stage in the thymus.
A new gene therapy has successfully corrected the genetic defect responsible for Fabry disease in mice, producing a sustained level of enzyme activity and reducing fat buildup in target organs. The treatment, administered shortly after birth, could potentially lead to a one-time treatment option for humans.
Researchers will pinpoint the genetic cause of Thiel-Behnke, a rare corneal dystrophy, using a $1.1 million NEI grant. The study aims to improve diagnosis and treatment options for other types of corneal dystrophies.
Researchers at UCSD School of Medicine discovered the AHI1 gene mutation responsible for Joubert Syndrome, characterized by excessive brain folds. The study also identified a potential link between the disorder and common childhood brain abnormalities like autism.
Researchers create strategy to trick ATM gene into overlooking premature termination codons, restoring full-length protein production and alleviating symptoms. The treatment uses aminoglycosides to make PTCs invisible to the cell's machinery, showing promise for halting disease progression and cancer risk in A-T patients.
A study at Duke University Medical Center discovered the cln3 protein transports a vital lipid that is essential for normal cell function. The breakdown of this system leads to uncontrolled apoptosis in Batten disease, but the protein also plays a role in cancer, Alzheimer's, and AIDS.
A genetic disorder, Williams syndrome, has been studied using brain imaging techniques to understand its impact on genes and cognition. The research found that the disorder affects the dorsal pathway of the visual cortex, leading to difficulties in visuospatial construction.
Scientists identify ZIC1 and ZIC4 genes linked to Dandy-Walker, a condition affecting the cerebellum. The discovery may lead to prenatal diagnosis and better understanding of autism.
A new study identifies a genetic link between schizophrenia and the GRM3 gene, which regulates glutamate in brain synapses. People with the 'A' variant have lower levels of glutamate and poorer cognitive function compared to those with the 'G' variant.
The American Academy of Neurology has updated its diagnostic standard for headaches, adding new subtypes and disorders. The revised criteria provide a clearer framework for diagnosing and treating various types of primary and secondary headaches.
A study by Tufts University researcher Catherine Freudenreich reveals that cells with certain DNA mutations may activate a surveillance system to repair damaged DNA, leading to cell death. The findings could lead to advances in treating diseases such as Huntington's disease and muscular dystrophy.
Researchers found six different mutations in the ATP1A3 gene, which can cause permanent tremors and loss of muscle control. The mutations disrupt the protein's ability to pump sodium and potassium across neurons, leading to neuronal death.
Researchers developed a genetic model for familial spastic paraparesis, identifying the role of spastin in nerve communication. The study found that pharmacological treatments can restore normal nerve function by stabilizing microtubule activity.
Researchers have identified a major pathway leading to chromosomal and nuclear abnormalities in preimplantation embryos. Abnormal spindles during cell division can lead to chromosomal chaos, affecting embryo development and implantation rates.
Researchers at the Hebrew University have identified the earliest evidence of a hereditary genetic disorder, amelogenesis imperfecta, in a 1.5 million-year-old Homo erectus child from Ethiopia. The disease affects tooth enamel structure and mineral content, leading to rapid wear and chipping.
Researchers investigate the role of mutated a-actinin-4 in FSGS, a leading cause of progressive kidney failure. The study reveals two possible mechanisms: aggregation and rapid degradation, which can injure kidney cells, highlighting potential therapeutic targets.
Scientists have identified genetic mutations in heat shock proteins linked to Charcot-Marie-Tooth disease, a debilitating disorder affecting peripheral nerves. The study's findings hold promise for developing new therapies and improving diagnosis.
A researcher has identified a genetic abnormality affecting American DFNA9 syndrome patients also present in Dutch families, including BOR syndrome, leading to valuable insights into the progression of diseases. The discovery highlights the importance of gene matching research for identifying new candidate genes.
Researchers have detected a Senataxin gene mutation that may contribute to the degeneration of motor neuron cells in a rare form of ALS. This discovery opens up avenues of investigation for understanding and treating other forms of motor neuron diseases.
Defects in mitofusin 2, a critical mitochondrial fusion gene, underlie CMT type 2A. Gene therapy may alleviate symptoms by restoring lost gene function.
Scientists have discovered a key relationship between two inherited eye disorders, Norrie disease and FEVR, linked to blood vessel malformation and activation of the Wnt pathway. The study sheds light on potential treatments for these conditions and raises questions about specialized vascular development systems in other tissues.
Researchers at Duke University Medical Center have discovered a gene link between juvenile polyposis and high blood pressure syndrome. The study suggests that patients with the intestinal disorder should undergo genetic screening for vascular defects, as they are at risk of experiencing severe nosebleeds or strokes.
A study found that individuals with panic disorder have reduced expression of the 5-HT1A receptor protein, which regulates serotonin synthesis and release. This reduction is associated with decreased function in brain areas critical for anxiety regulation.
A study found that genetic variation can influence motivation to drink alcohol, particularly to alleviate social anxiety and improve mood. This can lead to enhanced behaviors that increase the risk for alcoholism. The study suggests a link between genetic factors and drinking motives, providing insight into the biology of alcoholism.
Researchers discovered a gene, CREST, crucial for normal brain connections formed in response to sensory experiences. The study revealed that mice lacking the CREST gene develop abnormally in response to calcium ions and experience learning disorders.
Two Vanderbilt researchers have received NAAR fellowships to develop new tools for identifying and understanding the genetic causes of autism. Lynnette Henderson is working on extending Stone's Screening Tool for Autism in Two-year-olds, while Jacob McCauley will conduct a genetic analysis of serotonergic and GABA-ergic genes.
Researchers have discovered a new gene, malcavernin, associated with the brain disorder CCM, which can be used to diagnose and treat the condition. The discovery provides hope for early detection and monitoring of the disease in families at risk.
A study found that children identified by newborn screening required hospitalization at a lower rate than those clinically identified, and mothers experienced lower stress in the screened group. However, false-positive results were associated with increased risk of hospitalization and parental stress.
A recent study identified distinct genes linked to late-onset Alzheimer's disease in families with average age at onset of 80 years or older. The researchers also found a region on chromosome 2 associated with early-onset Alzheimer's disease between ages 50 and 60.
Researchers identified a mutation in the human serotonin transporter gene, hSERT, associated with OCD, which may result from a genetic double hit increasing serotonin transport and leading to treatment resistance. The study provides insights into transporter function and potential tests for identifying and treating mental illness.
Linda Brzustowicz will lead research on hereditary patterns of autistic behaviors, analyzing 'trio' samples from autistic individuals and their parents to define genes linked to the disorder. The study aims to better understand, treat, and potentially prevent autism.
Scientists have discovered two mutations in the ATCAY gene, responsible for Cayman ataxia in humans and similar neurological disorders in mice. The study provides a breakthrough in understanding rare genetic diseases and may lead to diagnostic tests and treatments.
Studies suggest schizophrenia and bipolar disorder have reduced expression of genes responsible for myelin development in brain cells, potentially linked to environmental issues or infections. This discovery may enable early treatment before symptoms emerge in late adolescence or early adulthood.
Research suggests that schizophrenia and bipolar disorder share similar genetic causes, with key oligodendrocyte-related and myelin-related genes showing reduced expression in patients. This finding has implications for understanding the underlying mechanisms of these complex mental health conditions.
Researchers identified a genetic region on chromosome 11 associated with eye and kidney problems in individuals with Joubert syndrome. The study provides hope for developing a genetic screening test to inform parents about the risk of passing the condition to future children.
A genetic dictionary has been developed to understand the role of newly identified genes and their functions, which can aid in identifying unknown genes involved in cell division and cancer. The dictionary is based on gene activity data from four organisms and provides a context for understanding genetic words.
A study at the Salk Institute found that children with Williams syndrome exhibit unique social behavior patterns, including high scores on tests measuring social interactions. Genetic screening revealed that one gene may be responsible for this hyper-sociability in some individuals, suggesting a potential genetic link to the disorder.
Researchers discover key mechanism underlying Hirschsprung disease by identifying genes that control neural crest stem cell migration. The findings may lead to potential correction of the disease through transplantation of neural stem cells.
Neurons in the striatum, responsible for emotions and movement, are selectively killed in Huntington's disease due to abnormally high calcium levels caused by mutant huntingtin protein. This discovery opens new areas for treatment of the disease.
Researchers at the University of Pittsburgh Medical Center have identified 19 genetic loci associated with depressive disorders, which may lead to more effective treatments. The study also found that individuals with these genes had a significantly reduced lifespan, particularly in children.