Rare virus that killed Gene

Rare virus that killed Gene Hackman's wife linked to three deaths in California

A rare virus that killed actor Gene Hackman’s wife in February has been linked to the deaths of three people in California. Hantaviruses are a group of viruses primarily spread through the urine, droppings or saliva of deer mice.

A rare virus that killed actor Gene Hackman's wife in February has been linked to the deaths of three people in California. Officials in Mono County, located between the crest of the Sierra Nevada mountains and the California-Nevada border, announced in a news release Thursday that a third person had died from a hantavirus in the small town of Mammoth Lakes so far this year.

Hantaviruses are a group of viruses primarily spread through rodent urine, droppings or saliva and cause fevers, muscle aches and shortness of breath, with a nearly 40% mortality rate, according to the Centers for Disease Control and Prevention. Deer mice, which are common in Mono County, are common carriers of it and Mono County officials said they suspect their numbers are higher this year.

Tom Boo, the public health officer for Mono County, said that it was "tragic and alarming" that three people have died from the Hantavirus Pulmonary Syndrome, the disease associated with the virus, in a short period of time. "We don't have a clear sense of where this young adult may have contracted the virus. The home had no evidence of mouse activity," Boo said.

"We observed some mice in the workplace, which is not unusual for indoor spaces this time of year in Mammoth Lakes. We haven't identified any other activities in the weeks before illness that would have increased this person's exposure to mice or their droppings."

Boo noted that, as far as officials know, none of the three victims had engaged in the types of activities that typically lead to exposure to a hantavirus, like cleaning out a poorly ventilated room with an abundance of mouse waste.

"These folks may have been exposed during normal daily activities, either in the home or the workplace. Many of us encounter deer mice in our daily lives and there is some risk," he said. "We should pay attention to the presence of mice and be careful around their waste."

He encouraged local residents to be vigilant with preventative measures against rodent activity, including setting out snap traps and sealing any gaps in a home larger than the width of a pencil, among other measures. The news came weeks after it was revealed that Betsy Arakawa, Hackman's wife, had died at their home in New Mexico from the virus.

Arakawa and Hackman were both found dead at their Santa Fe home in February, but Hackman tested negative for the hantavirus. His death was determined by an autopsy to have been caused by "hypertensive and atherosclerotic cardiovascular disease with Alzheimer's disease as a significant contributory factor."

zoonotic diseases, emerging pathogens, viral hemorrhagic fevers, orphan viruses, viral mutations, host-pathogen interaction, cross-species transmission, viral reservoirs, virome studies, viral diagnostics, viral latency, biosafety level 4, viral sequencing, phylogenetic analysis, neglected tropical diseases, immune evasion, antiviral resistance, outbreak surveillance, viral epidemiology, public health preparedness

#RareVirus, #EmergingPathogens, #ZoonoticThreats, #VirusResearch, #OutbreakAlert, #VirologyMatters, #InfectiousDiseases, #ViralGenomics, #NeglectedViruses, #BiosafetyLevel4, #OneHealth, #GlobalHealthSecurity, #PandemicPreparedness, #MutatingViruses, #VirusSurveillance, #PathogenHunting, #TropicalMedicine, #SilentEpidemics, #HostPathogen, #ViralThreats

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Chromosome abnormalities

Chromosome abnormalities found in healthy breast tissue

Epithelial cells, which line many body surfaces, can transform into several types of cancer. These transformed cancer cells often have an abnormal number of chromosomes, either more or less than the standard 23 pairs of chromosomes. This condition, called aneuploidy, is a hallmark of cancer, and it is commonly seen in breast cancer.

A few studies in recent years have used advanced genetic sequencing techniques to detect small numbers of aneuploid cells in normal body tissues, including the brain, colon, liver, lymphocytes, and sperm. But the significance of these rare aneuploid cells in healthy tissues is not well understood.

A research team led by Dr. Nicholas Navin of the University of Texas MD Anderson Cancer Center set out to learn about the prevalence and potential impact of aneuploid epithelial cells in normal breast tissue. They analyzed breast epithelial cells from 49 women who were undergoing breast reduction surgery. All of the women were healthy and had no signs of breast cancer. Their ages ranged from 18 to 63.

The researchers used a combination of advanced sequencing techniques to assess chromosome additions and deletions in more than 83,000 breast epithelial cells from these women. They then compared their findings to previously gathered data from women who had invasive breast cancer. Study results appeared in Nature on November 20, 2024.

The researchers found that all of the 49 healthy women harbored rare aneuploid epithelial cells in their breast tissue. A median of about 3% of the tested cells in each woman were aneuploid. The number of aneuploid epithelial cells in each woman tended to increase with age. Most of these abnormal cells (median more than 80%) had undergone significant chromosomal changes, many of which are seen in invasive breast cancers.

The findings suggest that most healthy women have low levels of aneuploid cells in their breast tissues. Additional studies are needed to determine if increased levels of these rare cells raise the risk for future breast cancer. In addition, the researchers note that their findings might also be applicable to other organs and tissues that contain epithelial cells.

“We’ve always been taught that normal cells have 23 pairs of chromosomes. But that appears to be inaccurate because every healthy woman that we analyzed in our study had irregularities, bringing up the very provocative question about when cancer actually occurs,” Navin says. “This has pretty big implications not just for the field of breast cancer, but potentially for multiple cancer types.”

congenital disorders, genetic mutations, chromosomal abnormalities, birth defects, developmental delay, neurological disorders, metabolic disorders, structural anomalies, rare diseases, prenatal diagnosis, hereditary conditions, gene expression, syndromic features, phenotype variation, molecular abnormalities, clinical manifestations, diagnostic imaging, pathophysiology, cellular dysfunction,

#abnormalities, #geneticdisorders, #birthdefects, #neurologicalabnormalities, #congenitaldisorders, #chromosomalanomalies, #raredisease, #developmentaldelay, #prenataldiagnosis, #moleculargenetics, #clinicalresearch, #genemutation, #phenotypevariation, #medicalgenetics, #structuraldisorders, #epigenetics, #diagnosticimaging, #metabolicdisorders, #healthresearch, and #cellulardysfunction

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Genetic Susceptibility

High muscle strength can prevent type 2 diabetes regardless of genetic susceptibility

Researchers from the School of Public Health, LKS Faculty of Medicine of the University of Hong Kong (HKUMed) conducted a large-scale epidemiological study to explore the potential health benefits of high muscle strength in preventing type 2 diabetes (T2D) across varying levels of genetic risk.

The study found that higher muscle strength was associated with over 40% lower risk of T2D, regardless of genetic susceptibility to T2D. The study highlights the importance of maintaining or improving muscle strength as a key strategy for preventing T2D. The findings were published in BMC Medicine.

T2D is one of the most common chronic metabolic disorders, and it is associated with an increased risk of various complications, including heart disease, stroke, high blood pressure, and narrowing of blood vessels. It is characterized by elevated blood sugar levels, also known as hyperglycemia, due to insulin resistance and impaired insulin secretion.

Evidence suggests that around 10% of the global population is affected by T2D, therefore, preventing T2D is a significant global public health concern. T2D can be caused by the interplay between non-modifiable genetic traits and modifiable lifestyle factors. Muscle strength is an important aspect of muscular fitness, and it has been found to be associated with lower risk of various cardiometabolic diseases including T2D.

However, it remains unclear whether improving muscle strength should be considered a T2D prevention strategy in individuals with varying levels of genetic susceptibility to T2D, particularly those with high genetic susceptibility to T2D.

Research methods and findings

The research utilized data of 141,848 white British individuals without baseline T2D from the UK Biobank, an ongoing prospective cohort of over 500,000 U.K. adults which includes extensive genotype and phenotype information. Muscle strength was assessed in the form of grip strength. Genetic risk of T2D was estimated based on 138 known genetic variants for T2D.

The participants were followed up for more than seven years. During the follow-up period, 4,743 new T2D cases were identified. The findings indicated that, compared with low muscle strength, individuals with high muscle strength was associated with a 44% lower relative risk of developing T2D, even after taking into account T2D genetic risk as well as other risk factors.

Moreover, the research team observed evidence of an interaction between muscle strength and genetic susceptibility to T2D, suggesting that muscle strength may play a role in modifying the impact of genetic risk to T2D onset. The findings further revealed that individuals at high genetic risk of T2D but with high muscle strength could have a lower absolute risk of T2D, compared with those at low or medium genetic risk but with low muscle strength.

This study uncovered the first-ever prospective associations between muscle strength, genetic susceptibility to type 2 diabetes, and the risk of developing the disease. "The findings emphasize the crucial role of maintaining or enhancing muscle strength as a key strategy for preventing T2D in middle-aged and older adults, regardless of their genetic risk levels and including those at high genetic risk.

"We believe that these results offer novel insights into the significant impact of higher muscle strength on metabolic health," said Dr. Wang Mengyao, from the School of Public Health at HKUMed, the first author of this study.

"This study highlights the significance of Biobank studies in examining the interaction between exposures and genetics in influencing the risk of T2D. Further research utilizing ethnic-specific Biobank studies is needed to determine if these findings are applicable to other populations, such as East Asians," said Professor Ryan Au Yeung, Assistant Professor from the School of Public Health at HKUMed, a co-author of this study.

"Individuals in middle-to-late life are at increased risk of type 2 diabetes. However, our study has demonstrated the potential roles of high muscle strength in preventing the future risk of developing type 2 diabetes not only in all individuals, but also in individuals with high genetic predisposition to type 2 diabetes.

"Our study supports the current public health guidelines which suggest that adults should engage in muscle-strengthening activities for at least two days per week from a disease prevention perspective," added Professor Youngwon Kim, from the School of Public Health at HKUMed, the corresponding author of the study.

Genetic disorder, inherited disease, mutation, DNA sequencing, chromosomal abnormality, gene therapy, rare disease, hereditary condition, genetic screening, precision medicine, Mendelian disorder, genomic research, personalized treatment, epigenetics, autosomal recessive, autosomal dominant, next-generation sequencing, genetic counseling, gene expression, pathogenic variant

#GeneticDisorder, #InheritedDisease, #Mutation, #DNASequencing, #ChromosomalAbnormality, #GeneTherapy, #RareDisease, #HereditaryCondition, #GeneticScreening, #PrecisionMedicine, #MendelianDisorder, #GenomicResearch, #PersonalizedTreatment, #Epigenetics, #AutosomalRecessive, #AutosomalDominant, #NextGenSequencing, #GeneticCounseling, #GeneExpression, #PathogenicVariant

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