Parents can Influence New Genetic Mutations in Children !

A new study has investigated how mothers and fathers cause new genetic mutations in their children, and how some of these mutations may lead to negative outcomes.

Characteristics that we inherit from our parents - starting with very basic features such as eye color or hair texture - shape not just our identity, but also the state of our health, both earlier and later in life.

That being the case, the study of genetics has become central to understanding who and what we are, as well as how our bodies are likely to develop in time, and how we might respond to internal or external factors.

For instance, recent studies have revealed the importance of genetic factors to conditions including Alzheimer's disease, brain cancer, and diabetes.

Given the importance of understanding the role of genetic factors to our health profile, scientists are constantly striving to decipher the mysteries of the human genome.

Researchers are looking at how the parents' age and sex determine
new genetic mutations in the offspring.

Read more: How do parents influence new genetic mutations in children?

Genetic Mutations in Parents May Increase Risk of ALS in Children

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Source: MSN Health

Association Between Genetic Variation And Influenza Severity.

It is estimated that in the USA influenza -related deaths in recent years have ranged from 12,000 to 56,000. Factors like age, obesity, pregnancy and such chronic health conditions as asthma, chronic lung disease and heart disease are associated with an elevated risk of complications and death.

However, there are no proven genetic markers of influenza risk with an established mechanism of action. Interferon Induced Transmembrane Protein 3 (IFITM3) is an anti-viral protein that helps to block influenza infection of lung cells and to promote survival of the killer T cells that help clear the infection in the airways.

Image: A scanning electron micrograph of a CD8+ T cell engaging a virus.

(Photo courtesy of Dennis Kunkel).

A group of scientists collaborating with those at St. Jude Children's Research Hospital (Memphis, TN, USA) searched for other possible IFITM3 variants that correlated with gene expression, levels of the IFITM3 proteins and were common in influenza patients in the USA. The search led to an IFITM3 variant known as rs34481144. They checked 86 children and adults in Memphis with confirmed influenza infections and found two-thirds of patients with the most severe symptoms carried at least one copy of the newly identified high-risk IFITM3 variant. The high-risk variant was found in just 32% of patients with milder symptoms.

The team also found an association between the newly identified high-risk variant and severe and fatal influenza infections in 265 critically ill pediatric patients hospitalized in one of 31 intensive care units nationwide. The patients did not have health problems that put them at high risk for severe influenza. Of the 17 patients in this group who died from the infection, 14 carried at least one copy of the newly identified high-risk variant. Further study revealed how binding differed between the high-risk and protective variants. Those differences led to lower levels of the IFITM3 protein in individuals with two copies of the high-risk gene variant compared to other patients. The Memphis influenza patients also had fewer of the killer T cells in their upper airways. The study identifies a new regulator of IFITM3 expression that associates with CD8+ T cell levels in the airways and a spectrum of clinical outcomes.

Paul Thomas, PhD, an immunologist and corresponding author of the study, said, “A genetic marker of influenza risk could make a life-saving difference, particularly during severe influenza outbreaks, by helping prioritize high-risk patients for vaccination, drug therapy and other interventions. These results raise hopes that this newly identified IFITM3 variant might provide such a marker.” The study was published on July 17, 2017, in the journal Nature Medicine.

Source: labmedica

Screen Your Blood Cholesterol Levels For Your Heart Disease Risk!

Researchers have developed a first-of-its-kind rapid assay for measuring effectiveness of a patient’s high-density lipoprotein cholesterol (HDL-C) in cleaning up arterial cholesterol. This HDL-C function test could improve risk assessment and diagnosis, and help provide and monitor more personalized treatments for cardiovascular disease (CVD) patients.

Image: Research suggests a HDL-C function test could improve risk assessment and diagnosis,
and help provide and monitor more personalized treatments for CVD patients
(Photo courtesy of iStock).

While scientists have yet to fully elucidate how HDL-C helps protects against heart disease, one of its chief functions is thought to be mediating the removal of cholesterol from blood vessel walls. Recent studies have indicated that the ability of a patient’s HDL-C to do this – known as its cholesterol efflux capacity (CEC) – is a better gauge of CVD development than HDL-C levels on their own. This means, for example, that a patient with low levels of HDL-C but optimal CEC could be protected against heart disease to a greater degree than a patient with high levels of HDL-C but low CEC. However, the current standard research procedures for measuring CEC involve radioisotope-labeled cholesterol and cultured macrophages, making these methods too complex and time-consuming for clinical testing.

In this study, a team of researchers led by Amane Harada, PhD, of Sysmex Corporation (Kobe, Japan) and Ryuji Toh, MD, PhD, of Kobe University Graduate School of Medicine (Kobe, Japan) has developed a test for HDL-C function that is simple enough for clinical use. With a turnaround time of less than 6 hours, the test determines cholesterol uptake capacity (CUC) – the ability of HDL-C to accept additional cholesterol – which the researchers found correlates with CEC but is easier to measure. 

They evaluated their CUC test in 156 patients who had undergone revascularization (such as a stent or bypass) due to coronary artery disease and who had subsequently decreased their low-density lipoprotein cholesterol to a healthier level of less than 100 mg/dL. The study found that low CUC in these patients after treatment was significantly associated with the recurrence of coronary lesions. The researchers also determined that combining CUC with established CVD risk factors significantly improved the power of established factors to forecast which patients would redevelop heart disease.

If further trials validate this test, it could enable healthcare providers to use CUC in conjunction with HDL-C levels to better predict who is at risk for CVD onset or recurrence. This test could also be used to develop new treatments that increase CEC and to monitor their efficacy in patients.

“A more efficient enhancement of the atheroprotective functions of HDL may decrease the risk of atherosclerosis and [cardiovascular disease], although it has been difficult to develop therapeutic drugs with the expected effects,” wrote Harada and Toh in this paper, “We consider that this can be explained in part by the lack of a convenient assay system to evaluate HDL functionality without complicated or time-consuming procedures. In this respect, our cholesterol uptake assay provides a concise, accurate, and robust system for high-throughput analysis at low cost.”

The study, by Harada A et al, was published in the May 2017 issue of the Journal of Applied Laboratory Medicine.

Source: labmedica

Breast Cancer: The Body of Knowledge Grows

Scientists’ understanding of the genetics/genomics of breast cancer continues to grow; a revolution is underway both in terms of categorizing breast cancers and targeting treatment that will be effective in individual cases. New perspectives are being offered on the interpretation of biopsies, too. Here is a round-up of some very recent studies.

Genetic variants alter cells’ response to estrogen

An international study of almost 120,000 women has newly identified five genetic variants affecting risk of breast cancer, all of which are believed to influence how breast cells respond to the female sex hormone estrogen.

Estrogen acts as a trigger, binding to a molecule known as an estrogen receptor in most breast cells and triggering a cascade of signals that cause the cell to behave normally. However, the estrogen receptor is switched off in some cells and these do not respond to the hormone.

Read more: Breast Cancer: The Body of Knowledge Grows

Source: MedicalLaboratoryObserver

'We Can Completely Reverse Alcohol Dependence'

Scientists have discovered a way to entirely remove the urge to drink alcohol compulsively in an animal model. The researchers hope that, with enough funding, a solution to this age-old problem might be on the horizon.

Alcohol has been brewed and consumed by humans for almost 10,000 years.

In 2014, 87.6 percent of Americans over the age of 18 reported that they had consumed alcohol at least once in their life.

Although commonly available, it is an incredibly addictive substance. In the United States, an estimated 16.3 million adults over the age of 18 have an alcohol use disorder, and around 88,000 people die from alcohol-related causes annually.

For these reasons, thousands of researchers are dedicated to understanding the causes behind a compulsive need to drink alcohol and ways in which it might be curbed.

Read more: 'We Can Completely Reverse Alcohol Dependence'

Could alcoholism finally be on the way out?

Source: MedicalNewsToday

Streamlining the E.coli Genetic Code

Scientists design a bacterial genome with only 57 codons.

The genetic code normally contains 64 codons, but researchers from Harvard University and their colleagues have designed an Escherichia coli genome with only 57 codons, replacing the others wholesale. In a paper published today (August 18) in Science, the team describes the computer-generated genome and reports on the first phases of its synthesis in the lab.

“We create something that really pushes the limit of genomes,” study coauthor Nili Ostrov, a postdoc in George Church’s lab at Harvard, told The Scientist. “The idea is that this is completely new, and we’re trying to see if it’s viable.”

In the planned 57-codon E. coli genome, each of the seven deleted codons is exchanged for a synonymous one.

Read more: Streamlining the E.coli Genetic Code

SCIENCE, CHRIS BICKEL

Source: the-scientist

Human Embryo Implantation Model in Lab Dish

Scientists based at The Rockefeller University have created an experimental system that models the implantation of a human embryo. The new system, an adaptation of one used to recapitulate the implantation of a mouse embryo, provides an attachment substrate, surrounds the blastocyst with just the right chemical environment, and provides scaffolding that accommodates the morphological movements that are particular to human embryos. For example, a human blastocyst undergoing implantation assumes a disk-like shape, whereas the mouse blastocyst is oblong.

The in vitro system has been used to show molecular and cellular processes in human development that occur up to day 14 after fertilization. The system, which has experimentally replicated implantation outside of the uterus for the first time, promises to expand scientists’ ability to answer basic questions about our own development, as well as to understand early pregnancy loss.

Details of the work appeared May 4 in the journal Nature, in an article entitled, “Self-Organization of theIn Vitro Attached Human Embryo.” The article paid particular attention to postimplantation development of the human embryo, a process that remains mysterious.

Read more: Human Embryo Implantation Model in Lab Dish

Source: genengnews

Scientists are growing billions of blood cells in the lab

From helping humans live longer and hacking our performance, to repairing the body and understanding the brain, WIRED Health will hear from the innovators transforming this critical sector. Read all of our WIRED Health coverage here.

Jo Mountford is making billions of red blood cells in a laboratory in Glasgow. And now she wants to scale-up production. Big time.

Mountford, from the Institute of Cardiovascular and Medical Sciences at the University of Glasgow, started trying to create blood in the lab in 2007 and is now able to create it on demand.

In 2008, her team produced 100,000 red blood cells; by 2014 output had reached ten billion cells for the year. The ten billion cells were stored in 88 flasks and made up 8.8 litres of blood.

The team – funded by the Wellcome Trust and incorporating universities and organisations from around the UK – is now able to produce the cells in 30-31 days. "We can choose what blood group we make," Mountford told the audience at WIRED Health.

Read more: Scientists are growing billions of blood cells in the lab

The NHS Blood and Transplant facility in Bristol, where donated blood is screened. A British team
called Novosang wants to render this process obsolete

Source: Greg White

Sticky beads binding to sperm could offer a novel contraceptive

You ain't going nowhere.

We might have a brand new type of contraceptive on our hands, with scientists inventing sticky beads that can mimic female eggs in the uterus, and act as decoys to lure in sperm, bind to them, and block them from reaching the real thing.

The beads, which have so far only been tested in mice, do their thing thanks to a protein called ZP2, which exists on the zona pellucida – the surface of mammalian eggs. During conception, a sperm cell recognises a molecular fragment of ZP2 and binds to it, enabling the egg to be penetrated and fertilised. By mimicking this process with inert beads coated in the same protein, the sticky beads are effectively a honey pot to trap unwitting sperm.

In the study, a team from the US National Institute of Diabetes and Digestive and Kidney Diseases embedded the sticky beads into the uterus of female mice.

Read more: Sticky beads binding to sperm could offer a novel contraceptive

Source: ScienceAlert

Scientists develop supersensitive biosensor for cancer

A team of physicists and engineers at Case Western Reserve University in Cleveland, OH, has created an optical biosensor for cancer detection using nanostructured metamaterials that are 1 million times more sensitive than previous versions, pointing the way toward an effective early detection system for cancer and other illnesses.

The device, which is small enough to fit in the palm of a hand, has been developed to provide oncologists with a way to detect a single molecule of an enzyme produced by circulatingcancer cells.

Such detection could allow doctors to diagnose patients with certain cancers far earlier than possible today, monitor treatment and resistance, and more.

The research, published online in the journalNature Materials, describes how the nanosensor acts like a biological sieve, isolating a small protein molecule weighing less than 800 quadrillionths of a nanogram from an extremely dilute solution.

The researchers believe the sensing technology will also be useful in diagnosing and monitoring other diseases.

"The prognosis of many cancers depends on the stage of the cancer at diagnosis," says Giuseppe "Pino" Strangi, professor of physics at Case Western Reserve and leader of the research.

Read more: Scientists develop supersensitive biosensor for cancer

The researchers used nanostructured metamaterials 1 million times more sensitive
than previous versions, enabling an early detection system for cancer.

Source: medicalnewstoday