Articles tagged with Mutation
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A new gene scanning technique called meltMADGE enables the discovery of rare genetic variations associated with various diseases. Researchers analyzed nearly 10,000 middle-aged individuals and found associations with high cholesterol levels and potential protective effects.
Researchers have identified a regulatory element within the 52-kilobase deletion region responsible for Van Buchem disease. This discovery provides strong causal evidence linking the deletion to the disease and opens up new avenues for understanding bone formation and potentially developing therapeutic agents.
A study of 11,800 adults found that genetic screening for haemochromatosis was well-received by participants, with low anxiety levels and no discrimination from insurance companies. The authors argue that the benefits of screening outweigh the risks, making it a cost-effective option for preventing iron accumulation.
Researchers discover risk-increasing mutation in non-coding region of RET gene associated with Hirschsprung disease, challenging traditional focus on protein-coding sequences. The study highlights the importance of non-coding regions in disease development.
Researchers found no causative mutations in MEF2A gene among patients with premature coronary heart disease. This challenges the role of MEF2A in causing CAD and suggests another genetic variant may be responsible.
A new Standard Reference Material, SRM 2394, has been developed by NIST researchers to aid in the detection of low-frequency mutations in heteroplasmic DNA. The material provides a set of mixtures at 10 certified concentrations of two DNA fragments differing at one position.
A recent study found that the LRRK2 gene mutation is associated with Parkinson's disease in several families, indicating a genetic component of the disease. The mutation was identified in 22 out of 42 family members who carried the G2019S mutation, and all shared a common ancestral pattern.
Researchers find that mice with a double dose of IGF2 develop more precursor cells in the colon, doubling cancer risk when combined with a colon-cancer-causing genetic mutation. This epigenetic problem may contribute to colon cancer development.
A new Standard Reference Material from NIST will help clinical genetics labs accurately count fragile-X repeat sequences. The SRM 2399 consists of nine DNA samples with triplet repeats ranging from 20 to 118, ensuring quality control and check on test procedures.
A team of 138 undergraduate students, led by HHMI professor Banerjee, identified essential genes in eye formation using a novel genetic method. The students created flies with specific mutations, allowing them to study the impact of these mutations on the eye.
Researchers at Johns Hopkins Medicine have discovered a new syndrome characterized by wide-set eyes, cleft palate, or split uvula, and aggressive swelling of the aorta. Early diagnosis and treatment can prevent aortic rupture and save lives, with surgery often successful if performed promptly.
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 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.
A study found that a mutation in the LRRK2 gene appears in at least one of every 60 people with Parkinson's disease. The mutation may account for 1½ to 2 percent of cases, particularly those without a family history, and could lead to earlier detection of the disease.
A recent study found that the LRRK2 mutation is the most common genetic cause of Parkinson's disease, affecting approximately 5% of patients. This mutation is linked to slower disease progression, while symptoms are less severe compared to other mutations in the gene.
Biologists at UCSD identified a gene regulating plant branching, which they believe was crucial in transforming teosinte into maize. The researchers found numerous variants of the gene in teosinte but only one variant in modern maize, suggesting targeted human selection may have played a key role.
Researchers followed 87 women diagnosed with BRCA mutations who underwent BCT and found no increase in cancer recurrence risk. However, more than half suffered a cancer-related event within ten years, including 37.6% with new cancers in the untreated breast.
Genetic variation in ABCA1 transporter contributes to reduced HDL cholesterol levels in the general population. The study found that specific mutations affect HDL levels, with lower levels associated with a higher risk of cardiovascular disease.
A study published in Clinical Genetics found that genetic testing for a rare cancer syndrome saved $16,900 per year for 54 family members. The test also identified two asymptomatic family members who underwent prophylactic surgery to significantly decrease their risk of cancer.
A single genetic mutation in mitochondrial genes has been found to be associated with multiple risk factors for heart disease and stroke, including hypertension, high cholesterol, and low magnesium levels. The researchers also discovered a link between the mutation and other conditions such as hearing loss and weakened heart muscle.
Researchers identify genetic mutations in the N-terminal domain of the MC4R protein that contribute to obesity, providing a promising new strategy for treating the condition. The study suggests that drugs targeting sustained low-level MC4R activity may be effective in regulating appetite.
A study found genetic mutations in 16.3% of individuals with no lung cancer, associated with polycyclic aromatic hydrocarbons from smoky coal emissions. Women in Xuan Wei have an abnormally high lung cancer death rate despite low tobacco smoking rates.
A mouse study has identified a potential genetic link between NPAS3 and NPAS1 genes and psychosis. The mutated mice displayed deficits consistent with schizophrenia, including impaired social interaction and startle response. Further research is needed to confirm the connection.
Researchers discovered over 2,200 new human-specific Alu DNA repeats not found in chimpanzees, suggesting an explosive expansion of genetic code. This finding contradicts the idea of natural selection and highlights a chemical process driving human evolution.
A new study has identified 11 genetic mutations in SIDS cases, with a significant association found in African American babies. The study suggests that these mutations may contribute to the increased risk of SIDS in this ethnic group.
A study of 60 Korean women with breast cancer found a high rate of genetic mutations in BRCA1 and BRCA2 genes. The average age of diagnosis was 40-50 years old, which is younger than in the US population. The study suggests different genetic and environmental factors may be at play for Korean patients diagnosed at a young age.
A novel mutation in the SCN1A gene has been discovered in a family with generalized epilepsy with febrile seizures plus (GEFS+), a condition characterized by unusual brain activity. This finding may lead to improved diagnoses, treatments, and genetic counseling for affected individuals.
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.
Mayo Clinic researchers found gene mutations that disrupt stress signaling in the heart, making it vulnerable to damage. The study, published in Nature Genetics, may lead to new treatments for heart failure.
A genetic mutation in the CCR5 gene does not offer protection against HIV infection, according to new research by Scripps scientist Donald Mosier. The study tested the hypothesis that the mutation, which appeared in Europe during the Middle Ages, protected against both HIV and plague.
Researchers have discovered a new hereditary cancer mutation associated with an increased risk of colon, endometrial and ovarian cancers. The mutation was found in descendants of a German immigrant who arrived in the US in 1727.
A team of researchers at Stanford University used a computer simulation to trace the origins of genetic mutations in human populations. By modeling population growth, migration, and mutation rates, they were able to estimate the location and time of origin for these genetic changes.
A genetic mutation that disables a protein used by HIV-1 to infect cells is prevalent in 10% of Europeans due to historical smallpox exposure. This mutation, which protects against death from smallpox, has been transferred to AIDS, slowing its progression.
Researchers found one presenilin gene mutation associated with variable age of onset AD (from 35 to 85 years old) and two new presenilin gene mutations linked to early onset AD at age 49 to 54 years old. The study confirms the clinical manifestation of PS1 and PS2 gene mutations in Alzheimer's disease is similar to other dementias.
A study led by Dr. Lawrence C. Layman aims to identify genetic mutations contributing to delayed puberty, which may lead to better infertility treatment and birth control options. By analyzing the function of hundreds of genes, researchers hope to uncover potential treatments for this condition, which affects about 1% of the population.
A single gene mutation may have kick-started the emergence of new species in monkeyflowers by altering pollinator preferences. The study, which combined ecological observations with molecular genetic techniques, found that major changes can lead to speciation.
Researchers at Michigan State University found that initial changes in genetic makeup can lead to significant adaptations in plants and other organisms. The study used the monkeyflower plant, altering its genome to attract new pollinators, such as hummingbirds.
Researchers found a polymorphism in the SCL40A1 gene that increases iron storage protein levels, leading to primary iron overload. The mutation is more common in African populations and may explain the high incidence of the disease among African-Americans.
Researchers at Temple University have identified a genetic mutation responsible for inflammation in Crohn's disease. The study found that a specific protein, kininogen, plays a key role in the development of the disease.
Researchers at McGill University Health Centre identify two key gene mutations in French-Canadian families with retinitis pigmentosa. The study reveals variable and severe symptoms, including hearing loss. The breakthrough promises new screening and diagnostic tests for affected families.
A team of Purdue University researchers has identified the genetic mechanism responsible for dwarfed appearance in corn and sorghum plants. This finding may help develop dwarf forms in other crops, improving food production in certain regions. The study also reveals a genetic phenomenon involving direct duplication that causes instabil...
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.
Researchers have discovered a gene mutation associated with an eye disease that resembles age-related macular degeneration. The study, led by Michigan Medicine scientists, has found that the mutation in RDS can be inherited in an autosomal dominant pattern, affecting central vision and leading to permanent loss of vision.
Researchers from Fox Chase Cancer Center have discovered a rare genetic mutation in PBGS enzyme, resulting in a drastic structural rearrangement. This change can lead to the production of new protein complexes and potentially develop novel herbicides or antibacterial agents.
A new bead-array test can identify the 25 most common cystic fibrosis mutations in just 15 seconds, enabling potential parents to make informed decisions about conception and treatment options. The test requires only genomic DNA from a patient and uses a single reaction to screen for all 31 CF mutations.
Researchers discovered that a single life-extending mutation affects multiple genes, including those controlling cellular stress response and metabolic processes. The study reveals the intricate connections between genetic pathways and their impact on lifespan.
Myasthenia, a severe form of muscle weakness, has been linked to a novel genetic mutation that disrupts muscle responsiveness to nerve electrical impulses. Researchers at UT Southwestern Medical Center have identified a new cause for the debilitating disease, which may lead to new therapeutic approaches.
TSRI scientists have identified rare genetic mutations in the TLR4 gene that increase susceptibility to meningococcal sepsis, a devastating disease with a 12% case fatality rate. The study suggests that individuals with these mutations may be protected from severe sepsis through prophylactic treatment.
Researchers identified BRCA2 germline mutations in 19% of families with familial pancreatic cancer. The presence of specific frameshift mutations was found in 12% of the families studied. These findings suggest an important role for BRCA2 mutations in a subpopulation of families with familial pancreatic cancer.
Researchers found that the mahoganoid gene mutation causes neural damage similar to prion diseases, including loss of neurons and accumulation of astrocytes. The study suggests a link between protein metabolism defects and neurodegeneration in spongiform encephalopathies.
A new mouse genetic model exhibits a non-lethal form of spongiform brain disease, characterized by fluid-filled vacuoles and tissue degeneration. The mice lack the same motor coordination problems as affected cattle and are not contagious.
An international team of scientists has identified the LRPPRC gene as the cause of Leigh Syndrome, a devastating childhood disease that affects 1 in 2000 live births. The discovery enables carrier testing and prenatal diagnostic options, providing immediate clinical implications for families affected by the disorder.
Researchers discovered a gene mutation associated with a form of Charcot-Marie-Tooth disease, affecting approximately 1 in 2,000 people. The LITAF gene mutation was found in families with a history of the disease, suggesting its potential as a molecular marker for diagnosis.
Researchers discovered that mice without the myostatin gene had less physical damage to their muscles and were stronger than those with Duchenne muscular dystrophy. Blocking the myostatin protein may help delay progression or improve quality of life, but more studies are needed in humans.
Researchers at Weizmann Institute of Science observe 'sister chromosome' repair mechanism, which is responsible for 85% of last-resort repairs. This system enables cells to repair genetic damage without creating mutations, increasing genetic diversity and driving evolution.
Researchers found that glutinous rice originated in Southeast Asia due to a single genetic mutation in the Waxy gene, which suppresses amylose and gives it its sticky composition. The study also suggests that early Asian farmers selectively bred glutinous rice for its desirable traits.
A study of 74 patients with non-classic cystic fibrosis revealed that nearly a third had no detectable changes in their CFTR genes, sparking debate about the role of epigenetics and alternative causes. The findings may lead to improved diagnosis and treatment options for these patients.
A study published in Nature Genetics reveals a gene mutation underlying Amish microcephaly, a birth defect marked by a small head and brain size. The researchers found that the defect disrupts mitochondrial function, leading to abnormal brain development.
Researchers discovered a possible novel pathway for colon cancer in humans, associated with a single BLM mutation. The study found that almost two percent of patients with colon cancer carried the BLMAsh mutation, compared to less than one percent of healthy individuals.
Researchers at Duke University Medical Center have discovered a rare genetic mutation in sheep that causes large, muscular bottoms without excess fat. The 'callipyge' gene is imprinted, meaning it's only active in the offspring of the affected parent, and its discovery could illuminate how muscle and fat are deposited in humans.