Articles tagged with Heredity
Researchers identified a new inherited dystonia syndrome, DYT16, characterized by axial muscle involvement and sardonic smile. The condition is caused by a mutation in the PRKRA gene and follows a recessive mode of inheritance.
Scientists at the Feinstein Institute have identified nine genetic markers that can increase a person's risk for schizophrenia. The study used a new mathematical approach to analyze genetic information, providing evidence of a recessive inheritance pattern. This discovery could lead to improved diagnosis and treatment options.
Researchers found that males' simpler genetic architecture enables them to evolve faster and more efficiently in response to sexual selection. This is because males have only one X chromosome, making their inheritance pathway less complicated compared to females, who have two X chromosomes with interacting genes.
Researchers discovered that abnormal glutamine repeats interfere with key transcription factor TBP, leading to neurodegeneration in PolyQ diseases. The study provides insight into the molecular mechanisms underlying these inherited disorders.
A study published in Archives of Sexual Behavior found that the brains of gay and straight men differ in terms of brain structure. Gay men tend to have a larger corpus callosum, a region responsible for communication between the two hemispheres of the brain.
The Simons Simplex Collection will be a core resource for researching sporadic genetic mutations in autism. Researchers will analyze DNA samples from 2,000 families with one autistic child to understand the underlying causes of autism.
Researchers identified a significant genetic link between ankylosing spondylitis (AS) and inflammatory bowel disease (IBD), with evidence of clustering within families over six generations. The study found increased risk ratios for relatives of affected individuals, indicating a common genetic component for both conditions.
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 of 9,178 people in Denmark found that those with two copies of the H63D genetic defect were twice to three times more likely to develop stroke than those without the gene. The study suggests a link between the H63D gene and increased risk of stroke, but the exact mechanism is unclear.
A nationwide study reveals that over 500 sudden unexplained cardiac deaths occur annually in England, mostly among young men. The researchers found that only a third of cases were correctly identified as Sudden Adult Death Syndrome (SADS), with most victims having no prior heart history or symptoms.
A new genetic theory suggests that certain offspring characteristics can only be explained by genetic cooperation between maternal and paternal genes. This challenges the prevailing view of a parental power struggle, instead proposing that positive interactions between mothers and their offspring drive imprinting patterns.
Researchers have identified a single gene mutation that predisposes individuals to herpes simplex encephalitis, an infectious disease that can cause mental retardation and death. A new treatment strategy involving type I interferon may accelerate recovery and limit brain damage.
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 found that individuals with a single copy of the parkin gene mutation exhibit an average age of onset around 43 years old. This discovery challenges current understanding and highlights the need for further investigation into the role of partial parkin gene expression in Parkinson's disease.
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.
A study found that commercial genetic testing does not detect all cancer-predisposing mutations in BRCA1, BRCA2, CHEK2, TP53, and PTEN among women with breast cancer from high-risk families. The researchers identified previously undetected mutations in 17% of patients, highlighting the need for more accurate genetic testing methods.
A Mayo Clinic study found that women with a genetic change in the CYP2D6 enzyme are at higher risk of breast cancer relapse when treated with tamoxifen. This genetic variation can also reduce the development of hot flashes, a common side effect of tamoxifen treatment.
A study by the University of Chicago found that identical twins shared similar characteristics of loneliness at a rate of 50%, while fraternal twins shared at 25%. The research suggests that genetics may play a significant role in the development of loneliness, which can have severe consequences on mental and physical health.
Researchers created an animal model of Parkinson's disease using fruit flies with deleted DJ-1 genes, finding increased sensitivity to oxidative damage from common agricultural agents. The study suggests that DJ-1 plays a critical role in protecting dopaminergic neurons from oxidative stress.
A study published by Yale researchers found that 17 members of a family carried a specific mutation in the sodium channel Nav1.7 gene, which is associated with intense burning pain in the hands and feet triggered by heat and exercise. The discovery suggests the possibility of rational therapies targeting this affected channel.
Researchers have identified a new tumor suppressor gene, ARLTS1, that increases the risk of cancer in some individuals. The findings suggest that ARLTS1 may play an important role in the development of certain types of cancer, particularly familial cancers.
A single gene mutation in the LRRK2 gene has been identified as a cause of around one in 25 cases of Parkinson's disease worldwide. The mutation is associated with both inherited and sporadic forms of the disease, suggesting new diagnostic and treatment options on the horizon.
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 found female patients with Wolfram syndrome have significantly worse hearing than male patients. The study also discovered that USH2a patients' hearing loss gradually deteriorates over time.
Researchers at Johns Hopkins Medicine have identified a genetic pattern in the CFTR gene that can predict disease severity in individuals with the 5T mutation. The study found that combinations of thymine and guanine repeats in the CFTR gene affect disease status, with certain patterns being more common in people with lung disease.
Researchers have discovered a modifier gene, Scnm1, that affects the severity of neurological diseases in mice and is also present in humans. The study found that when the genetic code for this gene is transcribed, it can produce non-functional protein that alters the physical effects of inherited diseases.
The study found a specific genetic risk factor, the J haplogroup, to be protective against Parkinson's disease, particularly in white women. The researchers also discovered that this variant is more common in people with lower incidences of the disease.
A study published in Nature reveals a specific gene mutation causing inherited Long QT Syndrome, leading to fatal cardiac arrhythmias and sudden death. Researchers identified the E1425G mutation in ankyrin-B, a protein crucial for heart muscle cell function.
A study found that an uncommon variation of the Nogo gene increases schizophrenia risk, particularly when inherited from both parents. One in five people with schizophrenia has this risk gene, and researchers hope to discover new related genes to aid diagnosis and treatment.
Researchers have identified a new human hearing loss gene, TMIE, in deaf mice, which may lead to the development of a screening test and therapy for families affected by inherited hearing loss. The discovery brings scientists closer to understanding the intricate choreography of genes and proteins involved in human hearing development.
A large family study identified a specific genetic marker on chromosome 4 associated with inherited pancreatic cancer. The discovery sheds light on the disease's development and may lead to new prevention and treatment strategies.
Researchers at Mayo Clinic have identified the gene causing an inherited form of childhood kidney disease associated with renal failure and neonatal death. The discovery may improve prospects for gene testing and diagnosis of this life-threatening disease in young children, which affects one in 20,000 Americans.
A German research team found that people who inherit two copies of the GNB3 825T allele gene have a high risk of obesity if they do not engage in regular physical activity. Exercising for two hours or more a week appears to block the genetic tendency, highlighting the importance of lifestyle in preventing obesity-related diseases.
Researchers discovered a mutation in the mineralocorticoid receptor gene linked to severe hypertension in pregnant women. The findings suggest that progesterone may exacerbate hypertension in pregnancy and could lead to clinical trials of salt restriction.
Researchers have pinpointed a genetic error in the VEGFR3 gene responsible for hereditary lymphedema, a condition affecting millions worldwide. This discovery enables genetic testing and provides a therapeutic target for inherited forms of lymphedema.
Researchers at HHMI discovered that crossing two related mouse species results in abnormalities in gene imprinting and growth abnormalities in hybrid offspring. The study found that disruptions in growth contribute to speciation by reflecting a rapidly evolving divergence between species.
A recent study suggests that environmental factors play a significant role in the development of psychiatric disorders, alongside genetic factors. Research findings indicate that adversity and social determinants can contribute to the onset of conditions like post-traumatic stress disorder, depression, and antisocial personality disorder.
A study published in the New England Journal of Medicine highlights a rare genetic disorder Ehlers-Danlos syndrome Type IV, which increases the chance of early death. The disease affects between one in 100,000 and one in 500,000 people, with most deaths following rupture of large arteries.
A Mayo Clinic study found that a genetic defect known as long-QT syndrome may be the cause of many unexplained drownings. The research identified a genetic mutation in a 19-year-old woman who died after a near-drowning, and subsequent testing revealed that her mother and sister also had inherited the condition.
Vanderbilt's Program in Human Genetics will play a key role in identifying genes involved in common diseases, with initial focus on depression and sepsis. The program will utilize cutting-edge technology to analyze DNA samples and develop targeted treatments.
Researchers confirmed that one type of genetic mutation causes inherited profound deafness, while another does not. Genetic tests found 42% of individuals with moderate to profound congenital deafness had sequence variations in the GJB2 gene.
Scientists have extended their gene repair technology to correct point and frameshift genetic mutations, with potential applications for treating cystic fibrosis and other diseases caused by DNA deletions.
A study involving 1,500 pairs of Swedish and British twins found that aggressive behavior can be inherited, while social environment plays a crucial role in non-aggressive antisocial behavior. The research revealed different etiologies for aggressive and non-aggressive behaviors in boys and girls.
A study of 3359 twin pairs found that genes play a significant role in two behaviors contributing to compulsive gambling, with familial factors explaining 62% of the behavior. The researchers estimate that about half of these behaviors are genetically mediated, highlighting the importance of inherited factors in vulnerability to gambling.
A new form of inherited dwarfism, known as Dwarfism of Sindh, has been identified in a large Pakistani family. The condition is caused by a genetic mutation in the growth hormone-releasing hormone receptor (GHRH-R), leading to growth hormone deficiency and dwarfism.
Researchers at Johns Hopkins Medicine found that the gene KVLQT-1 is imprinted nearly everywhere in the body, but not typically in heart cells. This selective imprinting may explain why changes to the gene have different effects on heart rhythm and growth disorders.
A new study reveals that the BRCA2 gene mutation is found in one out of every 100 Ashkenazi Jews, increasing their breast cancer risk. The risk is more than three times higher for those who inherit the BRCA1 mutation compared to BRCA2.