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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Kangana Ranaut deletes post about Trump, regrets sharing 'very personal opinion'
New Delhi, May 15 (PTI): Actor and BJP MP Kangana Ranaut on Thursday said she has deleted her post about US President Donald Trump and regrets sharing her "very personal opinion" on social media.
Ranaut said she deleted the post after she received a call from BJP national president JP Nadda.
"Respected national president Shri @JPNadda ji called and asked me to delete the tweet I had posted regarding Trump asking Apple CEO Tim Cook not to manufacture in India.
"I regret posting that very personal opinion of mine, as per instructions I immediately deleted it from Instagram as well," Ranaut, who is BJP's from Mandi, wrote on X.
Trump, who is in Qatar as part of his four-day visit to the Gulf region, on Thursday said he had told Apple CEO Tim Cook that he does not want him to build iPhones in India.
Respected national president Shri @JPNadda ji called and asked me to delete the tweet I had posted regarding Trump asking Apple CEO Tim Cook not to manufacture in India.
— Kangana Ranaut (@KanganaTeam) May 15, 2025
I regret posting that very personal opinion of mine, as per instructions I immediately deleted it from…
