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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Bengaluru MLAs 'blackmailing' us, says Deputy CM DK Shivakumar as garbage crisis worsens
Bengaluru, Mar 14 (PTI): Karnataka Deputy Chief Minister D K Shivakumar on Friday alleged that the city MLAs across political parties are "blackmailing" the government over Bengaluru's garbage crisis.
Referring to them as "blackmailers" in the Legislative Council, he claimed that these MLAs are demanding Rs 800 crore in development funds.
He further alleged there is a "big mafia" controlling the city's solid waste management.
The Deputy CM was replying to MLC M Nagaraju’s question on the garbage issue in the city.
Nagaraju pointed out that many garbage transporting vehicles are stranded on the roads due to lack of waste disposal facilities. He also expressed concerns about waste not being cleared from the city.
“I have seen reports about the garbage problem in the media. There is a big mafia. The garbage contractors have formed a cartel and quoted prices 85 per cent higher than the standard rates. Now, they have approached the court preventing us from taking action,” Shivakumar, who is Bengaluru Development Minister, told the Council.
He further claimed that legal hurdles are delaying government efforts to streamline solid waste management.
Shivakumar revealed that the government had planned to divide the city's garbage disposal work into four packages and transport waste 50 km away, but the initiative has been stalled.
“Our Bengaluru MLAs are blackmailing us. I don’t want to name them. I am telling you the fact. They are from all the parties. They want Rs 800 crore as development funds. I cannot take their names here.”
He told the Council that for the past three days vehicles were stranded in Mahadevapura in the city.
Noting that he wanted to take the garbage at least 50 km away from the city, the Deputy CM appealed to the MLAs to help the BBMP identify 100 acres land in Kolar, Nelamangala, Kanakapura Road, or next to a forest land.
“I (government) will purchase it (land) and get a permanent solution. I asked the Industries Minister for 100 acres land, to which he wondered whether garbage be dumped inside industries?” Shivakumar said.
The Deputy CM said the experiment to generate power has failed.
“I had been to Hyderabad and Chennai. All electric (units) have failed. The only option is gas. There is a chance to generate gas. I had seen it at three to four places,” he opined.
Two locations have been identified for waste disposal – one is with the Nandi Infrastructure Corridor Enterprise (NICE) Road authorities and another one in Doddaballapura.
According to him, technologies exist to manage waste disposal efficiently without causing inconvenience to anyone or contaminating groundwater through leachate.
Shivakumar pointed out that all the governments have failed to find a humane solution to the garbage issue.
“What was done in the past was not done from the human perspective. Siddaramaiah and even the BJP had made promises but ultimately we have failed. We have to make a respectful arrangement for garbage disposal,” he noted.
He told the House that he would give a detailed reply on the issue on Monday.
