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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Bantwal: Ex-soldier dies after casting vote at home
Bantwal, Apr 24: Madhava Prabhu, an 85-year-old resident of Wagga in Bantwal, exemplified unwavering commitment to his civic duty even in the face of illness.
Admitted to a private hospital here owing to his ailment, Prabhu, a former army officer and inspector of Malaria Eradication department, died without responding to treatment on Wednesday.
Amidst his illness, Prabhu was determined to exercise his right to vote, especially with the provision for home voting for those aged 85 and above.
With the doctor's permission, he left the hospital briefly to fulfil his sacred duty on Tuesday. However, fate had a cruel twist in store as Prabhu's condition worsened upon his return to the hospital.
ALSO READ: Railways to run special trains for elections in Karnataka
Tragically, he passed away today, leaving behind his wife, two daughters, and sons.
Prabhu's life epitomizes dedication and service, from his tenure in the army to his role in the Malaria Eradication Department and his involvement in community affairs as vice president of the Multi-Purpose Co-operative Society.
His commitment to duty and his final act of voting serve as a poignant reminder of the importance of civic engagement, even in the most challenging circumstances.
