Genetic discovery could be 'tip of the iceberg' to better understand lung disease among Inuit | Canada News Media
Connect with us

Health

Genetic discovery could be ‘tip of the iceberg’ to better understand lung disease among Inuit

Published

 on

In his years as a pediatric respirologist at CHEO, Dr. Tom Kovesi had cared for many children with severe respiratory illnesses. But one patient stood out.

Kovesi, who is also an investigator with the CHEO Research Institute in Ottawa, had been following an Inuk girl from Nunavut since she was a baby. CHEO is the tertiary centre for children from Nunavut.

The girl had struggled through recurring bouts of severe pneumonia and serious ear infections. Her condition was so severe that it was consistent with the rare disease known as primary ciliary dyskinesia, or PCD, which Kovesi describes as a “cousin” of cystic fibrosis. But the belief had always been that Inuit populations, which have among the highest rates of lung disease in the world, did not have PCD.

That belief was based on previous research using less advanced diagnostic techniques than are currently available. In search of more information about her illness, Kovesi used an electron microscope to determine whether she had PCD, but the results were normal. Not satisfied, he tried genetic testing and that is where he found an answer: a never-before-discovered gene variant that causes PCD. He repeated the test at a second lab to be certain.

Primary ciliary dyskinesia is a rare disease that affects the tiny, hair-like structures (cilia) that line the airways. Cilia move together in wavelike motions. That motion carries mucus toward the mouth or nose to be coughed or sneezed out of the body.

But in patients with PCD, cilia do not work the same way to move mucus out of the body, which can cause breathing problems and recurrent infections.

Once the young girl was given treatment for PCD, her condition began to stabilize. She became Patient Zero for a new discovery that could have profound implications for treatment and provide better understanding of lung disease among members of the Inuit populations in Canada and elsewhere.

Genetic testing on other Inuit patients found others with the genetic marker for PCD.

Meanwhile, Dr. Adam Shapiro, an investigator in the Child Health and Human Development Program at the research institute of McGill University and a pediatric respirologist at Montreal Children’s Hospital, also found the gene variant in some patients.

Kovesi and Shapiro are co-senior authors of a paper published in the journal Pediatric Pulmonology that reports on seven Inuit patients with PCD identified through genetic testing.

The findings, a gene called DNAH11 in Inuit individuals from both Nunavik in northern Quebec and Nunavut, suggest that the disease may be “quite common among Inuit and may be an important cause of lung disease in this population,” said Kovesi.

The research should lead to routine testing for Inuit with recurrent pneumonia and/or chronic lung disease to determine whether they have PCD, the authors wrote. Kovesi also said routine newborn screening for PCD through genetic analysis should be considered in Inuit regions.

Diagnosing PCD is important, Kovesi said, because treatments — similar to therapies to treat cystic fibrosis — are available. Treatment includes daily airway clearance and the use of antibiotics to prevent infections, among other tactics.

PCD affects about one in 20,000 Canadians, but in Inuit populations, that number is estimated to be closer to one in 1,400, although more research is needed, say the authors of the paper.

Inuit populations have high rates of lung disease, including the highest known rates of respiratory syncytial virus (RSV) for children in the first year of life and high rates of tuberculosis.

“We see so much lung disease in the Inuit and it is so severe, it is disproportionate,” said Shapiro.

The genetic findings do not explain all of the lung disease in the Inuit population, he said, “but it explains some of it.”

Other key factors contributing to lung disease in Inuit populations include crowded and poorly ventilated housing and poverty, in some cases.

Shapiro noted that out of 40 children being followed at Montreal Children’s Hospital for severe chronic lung disease, the majority do not have PCD.

Both Shapiro and Kovesi said more work needs to be done, not only to treat patients, but to better understand the genetic causes of chronic lung disease.

“I think this is the tip of the iceberg,” said Shapiro. “It will open the floodgates for more genetic work.”

Kovesi said better understanding of the prevalence of PCD caused by genetic variants in the gene DNAH11 and possibly other genes in the Inuit population will require more research. The work, he said, is an important step “towards improved delivery of care to affected Inuit families.”

 

Source link

Continue Reading

Health

Whooping cough is at a decade-high level in US

Published

 on

 

MILWAUKEE (AP) — Whooping cough is at its highest level in a decade for this time of year, U.S. health officials reported Thursday.

There have been 18,506 cases of whooping cough reported so far, the Centers for Disease Control and Prevention said. That’s the most at this point in the year since 2014, when cases topped 21,800.

The increase is not unexpected — whooping cough peaks every three to five years, health experts said. And the numbers indicate a return to levels before the coronavirus pandemic, when whooping cough and other contagious illnesses plummeted.

Still, the tally has some state health officials concerned, including those in Wisconsin, where there have been about 1,000 cases so far this year, compared to a total of 51 last year.

Nationwide, CDC has reported that kindergarten vaccination rates dipped last year and vaccine exemptions are at an all-time high. Thursday, it released state figures, showing that about 86% of kindergartners in Wisconsin got the whooping cough vaccine, compared to more than 92% nationally.

Whooping cough, also called pertussis, usually starts out like a cold, with a runny nose and other common symptoms, before turning into a prolonged cough. It is treated with antibiotics. Whooping cough used to be very common until a vaccine was introduced in the 1950s, which is now part of routine childhood vaccinations. It is in a shot along with tetanus and diphtheria vaccines. The combo shot is recommended for adults every 10 years.

“They used to call it the 100-day cough because it literally lasts for 100 days,” said Joyce Knestrick, a family nurse practitioner in Wheeling, West Virginia.

Whooping cough is usually seen mostly in infants and young children, who can develop serious complications. That’s why the vaccine is recommended during pregnancy, to pass along protection to the newborn, and for those who spend a lot of time with infants.

But public health workers say outbreaks this year are hitting older kids and teens. In Pennsylvania, most outbreaks have been in middle school, high school and college settings, an official said. Nearly all the cases in Douglas County, Nebraska, are schoolkids and teens, said Justin Frederick, deputy director of the health department.

That includes his own teenage daughter.

“It’s a horrible disease. She still wakes up — after being treated with her antibiotics — in a panic because she’s coughing so much she can’t breathe,” he said.

It’s important to get tested and treated with antibiotics early, said Dr. Kris Bryant, who specializes in pediatric infectious diseases at Norton Children’s in Louisville, Kentucky. People exposed to the bacteria can also take antibiotics to stop the spread.

“Pertussis is worth preventing,” Bryant said. “The good news is that we have safe and effective vaccines.”

___

AP data journalist Kasturi Pananjady contributed to this report.

___

The Associated Press Health and Science Department receives support from the Robert Wood Johnson Foundation. The AP is solely responsible for all content.

The Canadian Press. All rights reserved.

Source link

Continue Reading

Health

Scientists show how sperm and egg come together like a key in a lock

Published

 on

 

How a sperm and egg fuse together has long been a mystery.

New research by scientists in Austria provides tantalizing clues, showing fertilization works like a lock and key across the animal kingdom, from fish to people.

“We discovered this mechanism that’s really fundamental across all vertebrates as far as we can tell,” said co-author Andrea Pauli at the Research Institute of Molecular Pathology in Vienna.

The team found that three proteins on the sperm join to form a sort of key that unlocks the egg, allowing the sperm to attach. Their findings, drawn from studies in zebrafish, mice, and human cells, show how this process has persisted over millions of years of evolution. Results were published Thursday in the journal Cell.

Scientists had previously known about two proteins, one on the surface of the sperm and another on the egg’s membrane. Working with international collaborators, Pauli’s lab used Google DeepMind’s artificial intelligence tool AlphaFold — whose developers were awarded a Nobel Prize earlier this month — to help them identify a new protein that allows the first molecular connection between sperm and egg. They also demonstrated how it functions in living things.

It wasn’t previously known how the proteins “worked together as a team in order to allow sperm and egg to recognize each other,” Pauli said.

Scientists still don’t know how the sperm actually gets inside the egg after it attaches and hope to delve into that next.

Eventually, Pauli said, such work could help other scientists understand infertility better or develop new birth control methods.

The work provides targets for the development of male contraceptives in particular, said David Greenstein, a genetics and cell biology expert at the University of Minnesota who was not involved in the study.

The latest study “also underscores the importance of this year’s Nobel Prize in chemistry,” he said in an email.

___

The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institute’s Science and Educational Media Group. The AP is solely responsible for all content.

The Canadian Press. All rights reserved.

Source link

Continue Reading

Health

Turn Your Wife Into Your Personal Sex Kitten

Published

 on

Product Name: Turn Your Wife Into Your Personal Sex Kitten

All orders are protected by SSL encryption – the highest industry standard for online security from trusted vendors.

Turn Your Wife Into Your Personal Sex Kitten is backed with a 60 Day No Questions Asked Money Back Guarantee. If within the first 60 days of receipt you are not satisfied with Wake Up Lean™, you can request a refund by sending an email to the address given inside the product and we will immediately refund your entire purchase price, with no questions asked.

(more…)

Continue Reading

Trending

Exit mobile version