Articles tagged with Genetic Disorders
A study published in Neuron reveals that genetic mutations in SHP-2 lead to an imbalance in brain cell development, resulting in mental retardation. The researchers found that the mutation causes neurons to overgrow and inhibits glial cell formation, disrupting neural balance.
A defect in one copy of the EGR2 gene disrupts myelin production, leading to peripheral neuropathy. Researchers have deciphered a key sequence essential to myelin assembly, paving the way for new therapies.
Scientists at Johns Hopkins have identified genetic culprits triggering a fatal lung disease. Mutations in telomerase genes were found in 8% of patients with inherited idiopathic pulmonary fibrosis (IPF), leading to short telomeres and cell death.
A study by researchers at the University of Texas at Austin found that female rats can detect changes in males' germline cells due to exposure to vinclozolin, leading them to avoid mating with those males. This avoidance behavior is linked to an epigenetic change that affects the male's fertility.
A new protein, CADPS2, has been identified as a potential cause of autism. Research found that mice lacking this protein exhibited autistic-like characteristics, including impaired social interactions and hyperactivity.
A study by Haojie Li and colleagues found that vitamin D deficiency is common among US men, affecting prostate cancer risk. Genetic variations in the VDR gene are also associated with an increased risk of developing prostate cancer.
A study found that tiny spontaneous gene mutations are 10 times more prevalent in sporadic cases of autism spectrum disorders than in healthy control subjects. The researchers propose that these anomalies are primary causes of the disorder in most cases when present, and may contribute to disease equally across the sexes.
Researchers at Yale University identified a potential autism gene through a global genome scan involving 120 scientists from 50 institutions. The study found two genes linked to autism: neurexin 1 and a gene on chromosome 11, which may contribute to the disorder's susceptibility.
Research suggests that nonsteroidal anti-inflammatory drugs (NSAIDs) may reduce the risk of developing esophageal adenocarcinoma in patients with Barrett's esophagus. The study found a significant protective effect in patients with multiple genetic abnormalities.
Researchers found a specific area of the genome on chromosome 2 associated with attempted suicide, bipolar disorder and major depression. The study identified a high degree of genetic similarity among family members with a history of attempted suicide and bipolar disorder.
A five-year study involving over 1,200 families has identified two new genetic links to familial autism, with one gene associated with neurexin 1 and a previously unidentified region of chromosome 11 implicated. The findings suggest that autism has numerous genetic origins rather than a single cause.
An international team of researchers has identified one gene and a previously unidentified region on chromosome 11 as potential contributors to autism. The study, published in Nature Genetics, is based on genetic samples from nearly 1,200 families with two or more children who have autism.
Researchers at NIH have found a second genetic defect causing previously unexplained forms of osteogenesis imperfecta (OI), a disorder weakening bones and resulting in frequent fractures. The affected gene contains information for P3H1 protein, crucial for refining collagen to its final form.
Researchers at the University of Edinburgh successfully reversed the symptoms of Rett Syndrome in a genetic mouse model, restoring normal brain function and mobility. The study's findings, published in Science Express, have significant implications for the treatment and potential cure of autism spectrum disorders.
Researchers have identified a novel biological pathway that may contribute to cases of mental retardation and autism, with mutations in two genes causing brain abnormalities and milder symptoms than classical forms of Cornelia deLange syndrome.
Scientists have identified a severe form of benign prostatic hyperplasia (BPH) tied to a gene called JM-27. A blood test detects high levels of this protein, indicating more severe symptoms. This discovery could lead to earlier diagnosis and targeted treatment for bladder-related complications.
An international group of eating disorders researchers states that families do not cause anorexia nervosa, contradicting Gisele Bundchen's claim. The data suggest a strong genetic component may be the root cause of this illness.
A study found that individuals with a G allele of the mu-opioid receptor gene crave alcohol more than those with the A allele. This genetic marker may be related to how much a person craves alcohol in high-risk situations, potentially affecting treatment options.
Researchers found that tissues taken from pig embryos between 42 days of gestation exhibit optimal growth potential and secrete factor VIII, a blood-clotting protein missing in hemophilic patients. This technique may one day help the body overcome genetic diseases.
Researchers at NIH have discovered a gene responsible for a previously unexplained, fatal form of Osteogenesis Imperfecta. The CRTAP gene plays a crucial role in collagen production and is found to be nonfunctional in patients with this rare disorder, leading to deformed brittle bones.
Researchers have developed a gene chip that can detect genetic causes of jaundice in children and adults, potentially leading to personalized treatment options. The 'jaundice chip' is nearly 100% effective in detecting common mutations associated with inherited liver diseases.
A team of Cambridge-led researchers has identified a genetic mutation that renders carriers pain-insensitive. The study reveals the role of the SCN9A gene in pain sensation and may lead to new, safer pain medications.
Researchers pinpointed paroxysmal extreme pain disorder (PEPD) to specific porelike sodium channels in peripheral nerve cells, highlighting the role of such channel disorders in inflammatory pain. Mutations in SCN9A gene were found to be responsible for at least two-thirds of PEPD cases.
A year-long study found that enzyme replacement therapy reduced the risk of death in children with Pompe disease by 99 percent. The treatment, which involves replacing the deficient enzyme acid a-glucosidase, was shown to improve respiratory performance and reduce the need for ventilators.
New research reveals that at least 10% of human genes have variations in the number of DNA copies, influencing gene activity and function. This discovery changes the way scientists think about genetic diseases and human evolution.
Researchers have successfully tested a gene therapy to combat alpha-1 antitrypsin deficiency, a common hereditary disorder that causes lung and liver disease. The treatment showed no adverse effects and introduced the corrective gene into patients' blood, with some evidence of protein production.
Research on mice carrying a mutated human gene for alpha-1-antitrypsin deficiency found that a non-steroidal anti-inflammatory drug significantly increased liver damage. The study suggests that NSAIDs could exacerbate liver injury in people with alpha-1-AT deficiency, highlighting the need to avoid these drugs.
Researchers identify Caveolin-3 gene as key to understanding electrical imbalance in heart rhythm disorder, long QT syndrome. The mutation of this gene can trigger arrhythmia and increase risk of sudden cardiac death, highlighting the need for new treatment targets.
Research suggests women testing negative for BRCA1 and BRCA2 genes are still at higher risk of breast and ovarian cancer. Regular screening from age 35/40 is recommended due to genetic modifier genes, increasing their risk by three times that of the general population.
A new finger-stick test for alpha-1 antitrypsin deficiency may help identify patients at risk of developing lung conditions, enabling early screening and treatment. The test shows that World Trade Center rescue workers with low levels of A1AT protein had faster decline in lung function compared to those with normal levels.
Researchers discovered that phosphorylation of MeCP2 at S421 increases transcription of genes required for experience-dependent brain maturation, including BDNF. This study reveals a complex regulatory loop between BDNF and neuronal activity in regulating MeCP2 function.
Researchers identified a key mechanism behind Rett Syndrome by pinpointing the S421 site on the MeCP2 protein responsible for its normal function. This specificity explains why mutations affecting that site target brain development, leading to delays in motor skills and speech loss.
A version of a gene has been linked to autism in families where more than one child is affected. The variant, which impairs brain development, was found in people with autism spectrum disorders and their parents, but not in controls.
Researchers identified IRF6 as a key gene causing cleft lip and palate disorders. The team also discovered that targeting this gene during pregnancy could lead to normal skin cell development.
A new gene, Slynar, has been linked to both depression and bipolar disorder, affecting around 10% of cases. Researchers hope the discovery will lead to new treatments for these conditions.
Researchers at Duke University Medical Center found two genetic mutations in the SLITRK1 gene linked to trichotillomania, affecting 3-5% of the population. The study validates a biological basis for mental illnesses and opens the door for genetic testing.
Panic disorder affects up to 5% of the population, causing recurrent anxiety attacks and agoraphobia. Anti-depressants and cognitive-behavioural therapy (CBT) are effective treatments, but less than half of those in need receive care due to barriers such as diagnosis difficulties and insurance coverage issues.
Researchers found that a variant of the ADH gene influences response to alcohol among non-Asians, potentially decreasing risk for alcoholism. The study suggests that genetic factors can impact an individual's ability to interpret other genes' effects.
A unique medical research study has begun evaluating 1,001 individuals at risk of developing Huntington's disease who do not know whether they carry the genetic defect. The PHAROS study aims to identify early signs of the disease and inform clinicians in designing better studies for new drugs.
Research found that smoking significantly increased the odds of developing rheumatoid arthritis in older Caucasian women without a genetic risk factor. The study, which included 115 postmenopausal women, revealed that tobacco smoke exposure doubled the risk of disease development.
Researchers discovered that different genes may be responsible for causing autism in boys than in girls, with varying degrees of severity. The study also found evidence for multiple genetic subtypes of autism, including male versus female and early versus late onset forms.
Researchers have found a significant association between OCD patients and genetic variations on the SLC1A1 gene, which regulates glutamate flow in brain cells. The study suggests that this gene may be a primary candidate for OCD, potentially leading to improved understanding and treatment of the disorder.
A study found that naltrexone increased the urge to drink in individuals with a positive family history, suggesting genetic factors at play. The OPRM1 gene was identified as a key genetic moderator of naltrexone's effects on alcohol cue reactivity.
A study published in Neurology reports four cases of MECP2 gene mutations in infant males with progressive encephalopathy, challenging the assumption that these mutations are always lethal before birth. The researchers encourage neonatologists and pediatricians to consider MECP2 as a possible cause of severe neurological abnormalities.
Researchers found that prosopagnosia, or face blindness, can be inherited and affects the ability to recognize familiar faces. Those with the disorder use various strategies to cope, including recognizing people by voice or clothing, and often go unnoticed by physicians other than neurologists.
Researchers have identified a set of 16 genes that can reliably distinguish carriers of recessive genetic disorders from non-carriers. These genes can be used to develop clinical tests to identify carriers of diseases such as Nijmegen breakage syndrome, which exhibit distinct gene expression patterns compared to controls.
Researchers found that valproate increased strength and improved function in adult patients with type III/IV spinal muscular atrophy. The study's lead author notes that further trials are needed to establish valproate as a treatment of choice for this condition.
A recent study discovered the PLA2G6 gene, linked to neuroaxonal dystrophies, may shed light on nerve cell degeneration in Parkinson's and Alzheimer's. The discovery has implications for understanding brain iron accumulation and potential treatments.
A study found that severe congenital neutropenia, a genetic disorder, was transmitted through sperm donation in five children conceived via IVF or donor insemination. The authors conclude that potential mothers should be properly counseled and informed about the risks of genetic disorders transmission.
ENDEAVOUR gathers genetic data from various databases and integrates it into a mathematical model to identify genes connected to diseases. The program has been tested in the laboratory and proven its validity for diagnosing Alzheimer's disease, leukemia, colon cancer, and Parkinson's disease.
Researchers discovered a novel gene linked to juvenile spinal muscular atrophy with rigidity and dyskinesia (JSRD), characterized by cerebellar defects, poor balance, and mental retardation. The CEP290 gene may control cell division in the cerebellum during human development.
Researchers have created genetically modified 'prosthetic' retinal cells that restore visual responses in mice with photoreceptor degeneration. The approach targets the cellular level and avoids complications associated with traditional methods, offering a potential breakthrough in treating complete blindness caused by inherited diseases.
Researchers found a common serotonin transporter promoter gain-of-function variant linked to obsessive-compulsive disorder (OCD). The study suggests improved screening, treatment, and medication development for OCD.
In the Middle East, public education is crucial for reducing genetic diseases linked to close-kin marriage. The WHO defines close-kin marriage as one between individuals who are second cousins or more closely related.
Research suggests that X-linked genes determine sex differences in disease, with males more vulnerable to deleterious mutations due to having only one copy of the gene. Females, on the other hand, have a backup copy, allowing them to mitigate the effect of mutations and expressing genes in a mixture of cells.
A study of 31 pathological gamblers and their relatives found a genetic link to the disorder. The research suggests that family members share genes that increase the likelihood of impulsive behavior.
Researchers found KCNC3 gene mutations in two families, one with adult-onset ataxia and the other with childhood-onset ataxia and mild mental retardation. These findings suggest that potassium channel abnormalities may contribute to a wide variety of neurodegenerative diseases.
Researchers analyzed over 25,000 protein-protein interactions to dispel old notions of what's important about them. The study identified 36 previously unknown interactions and showed that proteins encoded by genes mutated in inherited disorders interact with known disorder-causing proteins.
Researchers found that the SRY gene plays a crucial role in regulating dopamine-producing brain cells, which malfunction in Parkinson's disease. The study suggests that men are more susceptible to the disease due to lower levels of this gene, while women may have an alternative protective mechanism involving estrogens.
Defibrillator therapy found to be beneficial in reducing the risk of sudden cardiac death and prolonging life among patients with high-risk genetic cardiac disorders. The treatment is associated with significant cost savings, ranging from $15,000 to $20,000 per quality-adjusted-life-year saved.