Monday October 15, 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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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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Why NASA sent human sperm to space?

Previously several species, including frogs, salamanders, sea urchins, jellyfish, snails, medaka fish, nematode and other aquatic invertebrate animals, have successfully undergone breeding in space

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NASA Seeks Partnership With US Industry to Develop First Gateway Element
NASA, Pixabay

With talk of space tourism and even trips to Mars, NASA has launched human sperm to the International Space Station (ISS) to test what happens when it gets exposed to zero-gravity environment.

The mission, dubbed Micro-11, technically began on April 1, when NASA sent frozen human and bull sperm on board a Falcon 9 rocket to the ISS, the Inverse reported late on Thursday. The astronauts aboard the ISS will thaw and chemically activate the samples to prepare them for union with an egg. Using video recording they will track the sperm movements and send them back to Earth for further analysis.

ISS is a permanent base for astronauts stationed in the outer sky. Wikimedia Commons
Previously also many species have been breeded in outerspace. Wikimedia Commons

“Based on previous experiments, it seems the lack of gravity facilitates sperm mobility,” Fathi Karouia, lead scientist for NASA’s space biology project, was quoted as saying to Inverse.

“This is in line with other investigations on different model organisms which have shown that microgravity conditions trigger faster cell regeneration. “This flight project is the first to apply proven analytical methods to assess the fertility of human and bovine sperm in spaceflight,” Karouia said.

The experiment could also offer new insights into the ways long-duration spaceflight will influence human reproduction. Though this is not the first time sperm has been sent into space for testing, it could offer new insights into the ways long-duration spaceflight will influence human reproduction.

Also Read: NASA sending first-ever mission to study Mars’ deep interior

“This research is looking at early fundamental microgravity science,” the report said. Previously several species, including frogs, salamanders, sea urchins, jellyfish, snails, medaka fish, nematode (roundworm, known as Caenorhabditis elegans), and other aquatic invertebrate animals, have successfully undergone breeding in space. Moroever, aquatic invertebrates like amphipods, gastropods (pond snails), ostracods and daphnia (water flea) produced their offspring or repeated their life-cycles under microgravity during four months in space, the report said. IANS

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