Friday November 15, 2019

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

0
//
DNA
Heavy drinking can change your DNA: Study

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.

gene
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)

Next Story

Mexico Mammoths: Human-Built Woolly Mammoth Traps Found in Tultepec

Researchers speculated that ancient hunters probably chased the giant animals into the pits, which are 1.70 meters deep and 25 meters in diameter

0
Mexico, Mammoths, Human
In this undated photo released by Mexico's National Institute of Anthropology and History, mammoth bones lie at an excavation site in Tultepec, just north of Mexico City. VOA

Anthropologists have found skeletons of at least 14 woolly mammoths that died after falling into traps built by humans 15,000 years ago.

The two pits were found in Tultepec, just north of Mexico City, Mexico’s National Institute of Anthropology and History said this week.

Researchers speculated that ancient hunters probably chased the giant animals into the pits, which are 1.70 meters deep and 25 meters in diameter (5½ feet by 82 feet).

There was some evidence that some of the mammals had been butchered.

Mexico, Mammoths, Human
The two pits were found in Tultepec, just north of Mexico City, Mexico’s National Institute of Anthropology and History said this week. Pixabay

Luis Cordoba, the head of the excavation team, said the discovery was key in studying the relationship between prehistoric hunting and gathering communities and the huge herbivores.

“There was little evidence before that hunters attacked mammoths. It was thought they frightened them into getting stuck in swamps and then waited for them to die,” he told reporters. “This is evidence of direct attacks on mammoths. In Tultepec we can see there was the intention to hunt and make use of the mammoths.”

Also Read- Apple Leads With 48% Share in the Smartwatch Market

The pits were found when crews were digging in the area to build a garbage dump.  (VOA)