Articles tagged with Genetic Disorders
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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.
Tetrabenazine has been shown to decrease involuntary movement by 25% and improve patient outcomes. The medication targets the excessive movements caused by the disease's mutant protein, providing relief for patients with tasks such as eating and walking.
Researchers identified a new gene associated with Charcot-Marie Tooth disease, a rare inherited neurological disorder. This discovery may lead to better understanding of how nerves function and improved diagnostic possibilities for CMT sufferers.
Researchers at the University of Pittsburgh have developed a method using carbon nanotubes to detect single DNA base mutations. The technique produces sensor results comparable to state-of-the-art optical techniques and has several advantages over existing methods, including cost, time, and simplicity.
U of MN researchers identified the specific mutation causing Spinocerebellar ataxia type 5 (SCA5), a dominant gene disorder. The discovery enables genetic testing for patients at risk, providing improved diagnoses and insight into neurodegenerative diseases.
Researchers have identified a key gene involved in Meckel-Gruber syndrome type 3 (MKS3), a rare form of polycystic kidney disease. The discovery provides a breakthrough in understanding the disorder and developing new therapies.
A team of scientists from the University of New South Wales has identified a gene called FAT that is associated with an increased risk of bipolar disorder. The discovery was made using a multi-faceted approach that included studying families, patients, and therapeutic drug mouse models.
Researchers have successfully treated hereditary spastic paraplegia by delivering a normal paraplegin protein to spinal motor neurons via gene therapy. This approach improved motor function in mice and holds promise for treating other forms of peripheral nerve damage caused by genetic mutations.
A recent NIH study found a strong association between progressive aphasia syndrome and a specific prion gene variant, suggesting that the disease may be linked to genetic variations in the prion protein. The findings have significant implications for understanding the causes of this rare neurological disorder.
Research found a significant association between a COMT gene variant and antisocial behavior in children with ADHD or hyperkinetic disorder. Low birth weight was also associated with antisocial behavior, highlighting the importance of prenatal risk factors.
Researchers at Yale have identified a genetic link to Tourette's Syndrome in a rare DNA sequence mutation. The study found an abnormal DNA sequence in one family and identical, very rare changes in two unrelated individuals, suggesting the gene plays a role in regulating gene expression through microRNAs.
Researchers develop gene therapy that increases atrial natriuretic peptide production to control blood pressure without severely reducing it. The therapy successfully maintained healthy blood pressure levels for 125 days in mice.
A study has identified a genetic mutation in the SEPT9 gene as the cause of HNA, a chronic pain syndrome characterized by recurring episodes of severe pain. The mutation affects protein filaments that provide internal scaffolding for cells, leading to abnormal cell division and nerve disorders.
Hereditary Neuralgic Amyotrophy is characterized by repeated attacks of pain and paralysis in the affected area, often accompanied by facial features. Researchers have identified a genetic defect in the Septin 9 protein as the underlying cause of the disorder.
Researchers show that CD32 isoforms have differential contributions to dendritic cell activation, with ligation of CD32a inducing maturation and ligation of CD32b inhibiting it. Intravenous immune globulin selectively shifts Fc-gamma receptor expression to a CD32b-dominated profile, explaining its anti-inflammatory properties.
Researchers have identified the Dido gene as a potential tumor suppressor involved in myeloproliferative diseases. The study found that 100% of patients with these diseases had Dido expression abnormalities, suggesting a link between the gene and the development of MDS/MPD.
Researchers identified a new gene, BRIP1, associated with Fanconi anemia's hallmark chromosomal instability. The protein BACH1 helps DNA unwind for repair, and BRIP1 mutations disrupt this process.
Researchers discovered specific mutations in the TACI gene that are associated with common variable immunodeficiency and IgA deficiency. These genetic defects impair the immune system's ability to fight infections, increasing the risk of recurrent illnesses and autoimmune diseases.
A recent study found that children who experience a low response to alcohol are at higher risk of developing alcohol dependence. The research also suggests that genetics play a significant role in the development of this trait.
A new study published in the Archives of Neurology found that using Lorenzo's Oil can prevent the onset of X-linked adrenoleukodystrophy (X-ALD) in a majority of young boys. The treatment, which involves daily oral doses of olive oil and rapeseed oil, showed a significant preventive effect in nearly three-fourths of patients.
Researchers discovered that specific DNA sequences, known as AluYb elements, played a crucial role in human evolution by secretly spawning hyperactive copies. These elements are responsible for the development of genetic disorders such as hemophilia and some cancers.
A recent study by the European Society of Human Reproduction and Embryology found that while Beckwith-Widermann syndrome had a significant risk for children conceived through ART, no significantly higher rates of other disorders were observed in children born after ART apart from BWS. The researchers also identified a possible mechanis...
Research identifies genetic linkages associated with bipolar disorder, including a possible connection to autoimmune thyroiditis. The findings suggest that identifying these genetic markers could help develop more effective treatments or prevent the disorder in at-risk individuals.
A new study found that healthy individuals carrying a specific variant of the dopamine transporter gene have significantly higher levels of dopamine transporter in their brains. The results suggest that this variation may influence concentrations of extracellular dopamine and are relevant to conditions such as substance abuse, tobacco ...
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.