New genetic disorder identified in human patient
New York, Sep 22: 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.
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.
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.
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Traffic fraud: Fake 'no-entry' sticker racket busted in Delhi, mastermind among 3 held
New Delhi (PTI): Police here have busted a crime syndicate involved in traffic fraud and extortion, arresting three people including the alleged mastermind who sold fake stickers to help commercial vehicles bypass no-entry restrictions, an official said on Saturday.
The police said they dismantled a third organised syndicate linked to traffic-related frauds, with the arrest of Rinku Rana alias Bhushan, his associate Sonu Sharma and Mukesh Kumar alias Pakodi, who was also connected to another extortion syndicate.
According to the police, Rinku Rana was running a well-organised network that facilitated the movement of commercial goods vehicles during restricted hours by selling fake 'marka' or stickers for Rs 2,000 to Rs 5,000 per vehicle every month. The stickers were falsely projected as authorisation to evade traffic challans.
During raids, the police recovered Rs 31 lakh in cash, property documents worth several crores of rupees, over 500 fake stickers and six mobile phones allegedly used to operate the syndicate.
The crackdown followed a complaint filed by a traffic police officer in April this year after a commercial vehicle tried to evade checking by producing a fake sticker claiming exemption from enforcement action.
Investigation revealed that social media groups were being used to coordinate the illegal movement of vehicles and alert drivers about traffic police checkpoints, police said.
"A parallel system was being run to cheat drivers and vehicle owners while undermining traffic enforcement. On the basis of evidence, provisions related to organised crime under the BNS were invoked," a senior police officer said.
Sonu Sharma, the police said, managed social media groups through which stickers were sold and real-time alerts were circulated regarding traffic police movement. He also acted as a link between Rana and drivers operating in the field.
In a related development, Mukesh Kumar alias Pakodi, an associate of Rajkumar alias Raju Meena, who was earlier arrested under the Maharashtra Control of Organised Crime Act (MCOCA), was also apprehended.
Mukesh allegedly helped extort money from transporters and was involved in blackmailing traffic police personnel by recording enforcement actions, the police said.
Investigators alleged the syndicate led by Rajkumar deployed drivers to deliberately violate traffic rules and secretly record police officials during challans, later using manipulated videos to extort money under threat of false allegations.
The police said that in total, eight accused belonging to three different organised crime syndicates linked to traffic frauds and extortion have been arrested so far.
Further investigation is underway to trace the remaining members, conduct financial probes, and analyse digital evidence recovered during the raids, officials added.
