Wednesday December 12, 2018

New Genetic Disorder Found in Human Patient

The original ODC1 mouse model was developed by Thomas G. O'Brien in 1995 at the Lankenau Medical Research Centre in Pennsylvania

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DNA
New ML-tool uses DNA to predict height and cancer risk. Pixabay
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In a first, US researchers have identified a new genetic disorder, which was previously described in animal models, in a human patient.

Researchers from the Michigan State University found that the disorder is caused by mutations in a gene known as ornithine decarboxylase 1 (ODC1).

It is defined by a number of clinical features including large birth weight, enlarged head size, hair loss, reduced muscle strength, skin lesions, hearing loss and developmental delays.

“This remarkable case represents the first human example of a disorder that was described by researchers in a transgenic mouse model more than 20 years ago,” said Andre Bachmann, Professor at the varsity.

However, the disorder is, as of yet, unnamed, and its long-term effects, which include impacts on the neurological system, are not completely known.

The disorder was first identified on an 11-month-old baby girl in Michigan.

In the study, published in the American Journal of Medical Genetics Part A, blood samples for testing were drawn at age 19 months and 32 months.

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Gene (Representational image). IANS

Two developmentally normal, age/gender matched patients that were being sedated for outpatient same-day procedures served as controls.

Red blood cells obtained from the patient showed elevated ODC protein and polyamine levels compared to healthy controls.

“The ODC1 gene plays an important role in a number of physiological and cell developmental processes including embryo and organ development,” said Caleb Bupp, medical geneticist at Spectrum Health — a US-based health care company.

The study also showed that the ODC inhibitor DFMO — a water soluble — and US Food Drug Administration (FDA)-approved drug may serve as a disease-modifying drug, and an early therapeutic trial in a new diagnosis may prevent some of the clinical symptoms.

Also Read- Breast Milk Boosts Brain Development in Premature Babies

DFMO has been used for many years in the treatment of trypanosomiasis — a tropical disease transmitted by biting insects and more recently entered clinical trials for pediatric neuroblastoma and colon cancer.

In mice, DFMO prevented hair loss and also partially restored hair growth and is considered a well-tolerated drug.

The original ODC1 mouse model was developed by Thomas G. O’Brien in 1995 at the Lankenau Medical Research Centre in Pennsylvania. (IANS)

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Microplastics Found In 100 Percent Of Humans Studied: Research

Plastic is apparently showing up in all of us

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Microplastics, plastic
Plastic bottles and other plastics, including a mop, lie washed up on the bank of the River Thames in London, Britian. VOA

In the first study of its kind, Austrian researchers have tracked the movement of microplastics into human beings. The results show that the plastic that is a ubiquitous element of human life is now also a constant element in the human body.

The research was presented at this week at UEG Week in Vienna, Austria, the largest gastroenterology meeting in Europe.

Follow the plastics

Two Austrian researchers, Dr. Philipp Schwabl from the Medical University of Vienna, and Dr. Bettina Liebmann, from the Environment Agency Austria, studied participants from countries including Finland, Italy, Japan, the Netherlands, Poland, Russia, the UK and Austria.

Microplastics are particles of plastic less than 5 mm in size. They are often tiny plastic beads that are put in cosmetic products. A few nations, including the U.S., the UK and South Korea, have banned microbeads. But microplastics also are created when larger pieces of plastic break down over time, and plastic in general is everywhere. The U.N. estimates that about 8 million metric tons of plastic end up in the world’s oceans every year. And the World Economic Forum estimated that Americans threw away over 33 million metric tons of plastic in 2014.

Microplastics
Courtesy – Philipp Schwabl. VOA

But this study, which was small, suggests that plastic, whether it’s bad for us or not, is already in all of us.

Study participants were asked to keep a food diary for seven days prior to taking part in the test. Then they turned over stool samples to the researchers who then looked for microplastics.

And they found them. Every single stool sample tested positive for the presence of microplastic, and up to nine different plastic types were identified.

Where is the plastic coming from? In the cases of this study, the plastic that showed up in people is associated with eating plastic wrapped foods, and drinking from plastic bottles. But most of the participants also ate fish, so Schwabl says that right now, “no exact conclusion on plastic origin can be made” on exactly where the plastic is coming from. Future studies should narrow that down.

Microplastics
Courtesy – Philipp Schwabl. VOA

What is it doing to us?

So is all that plastic making us sick? Schwabl says, for now, there are no definitive studies that suggest a danger to humans. But he says that in “animal studies, it has been shown that microplastics may cause intestinal damage, remodeling of the intestinal villi, distortion of iron absorption and hepatic stress.”

And the concern is “what this means to us, and especially patients with gastrointestinal diseases,” Schwabl says. “While the highest plastic concentrations in animal studies have been found in the gut, the smallest microplastic particles are capable of entering the blood stream, lymphatic system and may even reach the liver.”

Also Read: A Data Project to Predict Human Trafficking Before It Occurs By Corporate Giants

He was surprised, he says, to find that plastic is apparently showing up in all of us, and he expects the amount collecting in our bodies to keep increasing, unless the world drastically changes its use of plastic. (VOA)