Sunday January 19, 2020

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
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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.

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.

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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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Dance-like Behaviour in Chimpanzees Linked with Human Evolution: Study

Human dancing skills evolved from chimpanzees

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Chimpanzees
Scientists have found that a duo dance-like behaviour in chimpanzees is linked with human evolution. Pixabay

Researchers have found two chimpanzees performed a duo dance-like behaviour, similar to a human conga-line.

According to the study published in the journal Scientific Reports, researchers found the levels of motoric coordination, synchrony and rhythm between the two female chimpanzees housed in a zoo in the US, matched the levels shown by orchestra players performing the same musical piece.

Other species have been shown to be able to entertain by moving to the pace of a rhythmic tempo by an external stimulus and solo individuals, however, this is the first time it hasn’t been triggered by nonhuman partners or signals, the study said.

“Dance is an icon of human expression. Despite astounding diversity around the world’s cultures and dazzling abundance of reminiscent animal systems, the evolution of dance in the human clade remains obscure, said Adriano Lameira, from the University of Warwick in the US.

Chimpanzees human evolution
This behaviour in chimpanzees forces scientists interested in the evolution of human dance to consider new conditions. Pixabay

Dance requires individuals to interactively synchronize their whole-body tempo to their partner’s, with near-perfect precision, this explains why no dance forms were present amongst nonhuman primates,” Lameira said.

According to the researchers, critically, this is evidence for conjoined full-body rhythmic entrainment in great apes that could help reconstruct possible proto-stages of human dance is still lacking.

Although the newly described behaviour probably represents a new form a stereotypy in captivity in this great ape species, the behaviour forces scientists interested in the evolution of human dance to consider new conditions that may have catalysed the emergence of one of human’s most exuberant and richest forms of expression.

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The researchers report an endogenously-effected case of ritualised dance-like behaviour between two captive chimpanzees – synchronized bipedalism.

By studying videos they revealed that synchronisation between individuals was non-random, predictable, phase concordant, maintained with instantaneous centi-second precision and jointly regulated, with individuals also taking turns as ‘pace-makers’, said the researchers. (IANS)