I found an article about brain research in people with Down Syndrome.
Down Syndrome Neurons Show Synaptic Deficit
Tue, 2013-05-28 10:46
Be gentle.Karyotype of 21 trisomy (Down syndrome).Down syndrome, the most common genetic form of intellectual disability, results from an extra copy of one chromosome. Although people with Down syndrome experience intellectual difficulties and other problems, scientists have had trouble identifying why that extra chromosome causes such widespread effects.
In new research published this week, Anita Bhattacharyya, a neuroscientist at the Waisman Center at UW-Madison, reports on brain cells that were grown from skin cells of individuals with Down syndrome.
"Even though Down syndrome is very common, it's surprising how little we know about what goes wrong in the brain," says Bhattacharyya. "These new cells provide a way to look at early brain development."
The study began when those skin cells were transformed into induced pluripotent stem cells, which can be grown into any type of specialized cell. Bhattacharyya's lab, working with Su-Chun Zhang and Jason Weick, then grew those stem cells into brain cells that could be studied in the lab.
One significant finding was a reduction in connections among the neurons, Bhattacharyya says. "They communicate less, are quieter. This is new, but it fits with what little we know about the Down syndrome brain." Brain cells communicate through connections called synapses, and the Down neurons had only about 60 percent of the usual number of synapses and synaptic activity. "This is enough to make a difference," says Bhattacharyya. "Even if they recovered these synapses later on, you have missed this critical window of time during early development."
The researchers looked at genes that were affected in the Down syndrome stem cells and neurons, and found that genes on the extra chromosome were increased 150 percent, consistent with the contribution of the extra chromosome.
However, the output of about 1,500 genes elsewhere in the genome was strongly affected. "It's not surprising to see changes, but the genes that changed were surprising," says Bhattacharyya. The predominant increase was seen in genes that respond to oxidative stress, which occurs when molecular fragments called free radicals damage a wide variety of tissues.
"We definitely found a high level of oxidative stress in the Down syndrome neurons," says Bhattacharyya. "This has been suggested before from other studies, but we were pleased to find more evidence for that. We now have a system we can manipulate to study the effects of oxidative stress and possibly prevent them."
Down syndrome includes a range of symptoms that could result from oxidative stress, Bhattacharyya says, including accelerated aging. "In their 40s, Down syndrome individuals age very quickly. They suddenly get gray hair; their skin wrinkles, there is rapid aging in many organs, and a quick appearance of Alzheimer's disease. Many of these processes may be due to increased oxidative stress, but it remains to be directly tested."
Oxidative stress could be especially significant, because it appears right from the start in the stem cells. "This suggests that these cells go through their whole life with oxidative stress," Bhattacharyya adds, "and that might contribute to the death of neurons later on, or increase susceptibility to Alzheimer's."
Other researchers have created neurons with Down syndrome from induced pluripotent stem cells, Bhattacharyya notes. "However, we are the first to report this synaptic deficit, and to report the effects on genes on other chromosomes in neurons. We are also the first to use stem cells from the same person that either had or lacked the extra chromosome. This allowed us to look at the difference just caused by extra chromosome, not due to the genetic difference among people."
The research, published in the Proceedings of the National Academy of Sciences, was a basic exploration of the roots of Down syndrome. Bhattacharyya says that while she did not intend to explore treatments in the short term, "we could potentially use these cells to test or intelligently design drugs to target symptoms of Down syndrome."
This past Saturday was the regional Special Olympics Track Meet in Sacramento. I am always amazed at the courage and pride of these athletes. But take a look at these smiles. These athletes are always smiling!
A mother's love. Something we take for granted. As a parent, we treasure moments with our children. First smiles, first words, first dates........ Here is a very sad Mother's Day story. But a story of love and courage.
This is what being a mother is all about.
Courageous cancer patient, 32, who lived for her baby with Down syndrome passes away on Mother’s Day
Jorie Rogers of Ladue, Mo., was thought to be infertile when she became pregnant with son Tristan. The family celebrated the boy’s first birthday in March.
On Wednesday, Jorie said on Facebook that she had been given one to two weeks to live.
Jorie Rogers just wanted to live long enough to celebrate her son’s first birthday.
She got her wish, but the mother who wasn’t supposed to be a mother, the mother who wanted only the best for her miracle baby with Down syndrome, lost her battle with cancer on Sunday, her second and final Mother’s Day.
After the birthday party, Jorie said she wanted Tristan to know how hard she fought to be with him.
"It's very special because not only are we celebrating my son's first year and everything that he had to go through to get here, but it's the one birthday that I'll get with him," Rogers said in March when she held a carnival-themed party for her son, Tristan. "And we get to celebrate the one year that we had together."
Jorie Rogers was believed to be infertile after her radiation treatments but, after marrying high school sweetheart George Rogers, discovered she was pregnant.
She had stopped treatment in March after doctors told the Ladue, Mo., mother that her paraganglioma, a rare form of cancer that caused dozens of tumors in her body, had advanced to a point of no return.
The charity 3 Little Birds 4 Life made the birthday party come true. The Illinois-based nonprofit’s founder has vowed to continue helping the family “in any way possible.”
“They’ve given me one to two weeks left,” Rogers wrote on her Facebook page on Wednesday. “I guess if anyone wants to drop by for a visit sometime now would be the time to do it. I also realize that death is just too (scary) for some people to face in person and if that’s you, that’s ok too.”
Rogers’ story is both heartbreaking and heartwarming — a life lived to the fullest but one also cut short.
Jorie Rogers took to Facebook on Wednesday to ask people to make their final visits with her.
The 32-year-old’s radiation treatments were supposed to leave her infertile. But after marrying her high school sweetheart, George Rogers, Jorie found out that she was pregnant. After their baby was born, the couple learned that Tristan had Down syndrome.
Dad George holds Tristan as Jorie and the family enjoy the birthday party.
Plagued by medical bills, the Rogers called upon Illinois-based nonprofit 3 Little Birds 4 Life, an organization that grants people with cancer a wish. Jorie’s was for little Tristan to have a first birthday to remember, a carnival with popcorn machines, snow cones, clowns, jugglers and a bounce house.
Tristan with dad George Rogers.
Her wish — and Tristan’s — came true, and during a stretch of dreary late March weather, the skies cleared for the big day, leaving the 70 guests basking without jackets in the Midwestern sunshine.
"I want him to be able to look back on videos and pictures from today and hear the stories about today and for him to know how much his mom loved him,” Jorie then told KSDK-TV. “And for him to know how hard his mom fought to be here for him."
Reflecting on the birthday party’s significance, Jorie offered, “I want (Tristan) to be able to look back on videos and pictures from today ... and for him to know how much his mom loved him.”
Less than two months later, cancer claimed Jorie’s life. On Mother’s Day, no less.
Ashley Swip, 3 Little Birds 4 Life’s president and founder, said Jorie had been suffering the last few weeks. Jorie’s husband, George, called Swip on Sunday morning and broke her the news.
Burdened with medical bills, Jorie Rogers called upon a charity that grants cancer patients one wish in order to provide her son a carnival-themed first birthday in March. It would be the only birthday she’d be able to spend with Tristan.
“Jorie was really special, and today’s been really bittersweet,” Swip said. “I’m so glad we were able to meet her and her family. And we will continue to help the family in any way possible.”
Jorie was a member of a cancer support group on Facebook. The group’s leader, Tisa Perra, remembered Jorie on Sunday.
“Today, the world lost a valiant and courageous Pheo Trooper,” Perra wrote. “Jorie Wilson Rogers, was a loving mom, wife, sister, daughter and friend. She fiercely loved her son Tristan like a lioness. Her fighting spirit was an inspiration to many. She lived her life fully despite disease and suffering. May she rest in peace. May she be free from suffering.”