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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Kenya cancels airport and energy deals with Adani group after US indicts the tycoon
Nairobi, Nov 21: Kenya's president said Thursday he has cancelled multimillion-dollar airport expansion and energy deals with Indian tycoon Gautam Adani after US bribery and fraud indictments against one of Asia's richest men.
President William Ruto in a state of the nation address said the decision was made “based on new information provided by our investigative agencies and partner nations.” He didn't specify the United States.
The Adani group had been in the process of signing an agreement that would modernize Kenya's main airport in the capital, Nairobi, with an additional runway and terminal constructed, in exchange for the group running the airport for 30 years.
The widely criticised deal had sparked anti-Adani protests in Kenya and a strike by airport workers, who said it would lead to degraded working conditions and job losses in some cases.
The Adani group had also been awarded a deal to construct power transmission lines in Kenya, East Africa's business hub.
Also Thursday, Energy Minister Opiyo Wandayi told a parliamentary committee there had been no bribery or corruption involved on Kenya's part in signing that deal.
US prosecutors indicted Adani this week on charges he duped investors in a massive solar energy project in India by concealing that it was facilitated by an alleged bribery scheme. He was charged with securities fraud and conspiracy to commit securities and wire fraud.
