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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Trouble ‘Miyas’ everywhere only then they will leave Assam: Himanta Biswa Sarma
Says “Himanta Biswa Sarma, BJP are openly against them, we are saying it openly
New Delhi: Assam Chief Minister Himanta Biswa Sarma on Tuesday said that four to five lakh “Miya voters” would be removed from the electoral rolls in the state once the Special Intensive Revision (SIR) of voter lists is carried out. He also made a series of controversial remarks openly targeting the Miya community, a term commonly used in Assam in a derogatory sense to refer to Bengali-speaking Muslims.
Speaking to reporters on the sidelines of an official programme in Digboi in Tinsukia district, Sarma said it was his responsibility to create difficulties for the Miya community and claimed that both he and the BJP were “directly against Miyas”.
“Four to five lakh Miya votes will have to be deleted in Assam when the SIR happens,” Sarma said, adding that such voters “should ideally not be allowed to vote in Assam, but in Bangladesh”. He asserted that the government was ensuring that they would not be able to vote in the state.
The chief minister was responding to questions about notices issued to thousands of Bengali-speaking Muslims during the claims and objections phase of the ongoing Special Revision (SR) of electoral rolls in Assam. While the Election Commission is conducting SIR exercises in 12 states and Union Territories, Assam is currently undergoing an SR, which is usually meant for routine updates.
Calling the current SR “preliminary”, Sarma said that a full-fledged SIR in Assam would lead to large-scale deletion of Miya voters. He said he was unconcerned about criticism from opposition parties over the issue.
“Let the Congress abuse me as much as they want. My job is to make the Miya people suffer,” Sarma said. He claimed that complaints filed against members of the community were done on his instructions and that he had encouraged BJP workers to keep filing complaints.
“I have told people wherever possible they should fill Form 7 so that they have to run around a little and are troubled,” he said, adding that such actions were meant to send a message that “the Assamese people are still living”.
In remarks that drew further outrage, Sarma urged people to trouble members of the Miya community in everyday life, claiming that “only if they face troubles will they leave Assam”. He also accused the media of sympathising with the community and warned journalists against such coverage.
“So you all should also trouble, and you should not do news that sympathise with them. There will be love jihad in your own house.” He said.
The comments triggered reactions from opposition leaders. Raijor Dal president and MLA Akhil Gogoi said the people of Assam had not elected Sarma to keep one community under constant pressure. Congress leader Aman Wadud accused the chief minister of rendering the Constitution meaningless in the state, saying his remarks showed a complete disregard for constitutional values.
According to the draft electoral rolls published on December 27, Assam currently has 2.51 crore voters. Election officials said 4.78 lakh names were marked as deceased, 5.23 lakh as having shifted, and 53,619 duplicate entries were removed during the revision process. Authorities also claimed that verification had been completed for over 61 lakh households.
On January 25, six opposition parties the Congress, Raijor Dal, Assam Jatiya Parishad, CPI, CPI(M) and CPI(M-L) submitted a memorandum to the state’s chief electoral officer. They alleged widespread legal violations, political interference and selective targeting of genuine voters during the SR exercise, describing it as arbitrary, unlawful and unconstitutional.
