Low oxygen levels may decrease life-saving protein in spinal muscular atrophy

August 21, 2012

MedicalXpress (in Genetics) | August 21, 2012

Investigators at Nationwide Children’s Hospital may have discovered a biological explanation for why low levels of oxygen advance spinal muscular atrophy (SMA) symptoms and why breathing treatments help SMA patients live longer. The findings appear in Human Molecular Genetics.

SMA is a progressive neurodegenerative disease that causes muscle damage and weakness leading to death. Respiratory support is one of the most common treatment options for severe SMA patients since respiratory deficiencies increase as the disease progresses. Clinicians have found that successful oxygen support can allow patients with severe SMA to live longer. However, the biological relationship between SMA symptoms and low oxygen levels isn’t clear.

To better understand this relationship, investigators at Nationwide Children’s Hospital examined gene expression within a mouse model of severe SMA. “We questioned whether low levels of oxygen linked to biological stress is a component of SMA disease progression and whether these low oxygen levels could influence how the SMN2 gene is spliced,” says Dawn Chandler, PhD, principal investigator in the Center for Childhood Cancer and Blood Diseases at The Research Institute at Nationwide Children’s Hospital.

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One Family’s New Normal [Video]

April 19, 2012

One Family’s New Normal [Video]

Columbus Parent | By Jane Hawes

Vodpod videos no longer available.

It’s called Spinal Muscular Atrophy Type 1 and it has become the “new normal” for the Kingsley family.

Scott and Allison Kingsley’s youngest son Brett was diagnosed with SMA-1, a disease that affects voluntary muscle movement, when he was 7 months old. He just turned 6 in March and continues to beat the odds, thanks to a family-based system of care and what his mother calls their “circle of hope.”

It’s a circle that starts with Brett or “Prince Brett,” as Nationwide Children’s Hospital social worker Lori McCullough and other staff members there have dubbed him. He’s a blond-haired boy with dark eyes that move constantly, taking in everything around him, and elegantly long fingers that dance across the controls of the DynaVox, a speech-generating device, that talks for him.

The next ring of the circle is populated by his immediate family. Allison is the mom. You could call her a homemaker, but to do so you’d have to expand your definition of “home” to include most of the 614 area code. When she isn’t overseeing much of Brett’s therapies, doctors’ visits and all three of her children’s schooling in the Hilliard district, she’s giving speeches to new employees at Nationwide Children’s Hospital as part of their Family Advisory Council’s “Family as Faculty” program. And, of course, she’s also getting everyone else in the family fed, clothed and off to school, work or church each day.

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Abnormally low level of SMN protein linked to movement problems in spinal muscular atrophy

April 15, 2012

Abnormally low level of SMN protein linked to movement problems in spinal muscular atrophy

News-Medical.net | April 12, 2012

An abnormally low level of a protein in certain nerve cells is linked to movement problems that characterize the deadly childhood disorder spinal muscular atrophy, new research in animals suggests.

Spinal muscular atrophy, or SMA, is caused when a child’s motor neurons – nerve cells that send signals from the spinal cord to muscles – produce insufficient amounts of what is called survival motor neuron protein, or SMN. This causes motor neurons to die, leading to muscle weakness and the inability to move.

Though previous research has established the disease’s genetic link to SMN in motor neurons, scientists haven’t yet uncovered how this lack of SMN does so much damage. Some children with the most severe form of the disease die before age 2.

A research team led by Ohio State University scientists showed in zebrafish that when SMN is missing – in cells throughout the body as well as in motor neurons specifically – levels of a protein called plastin 3 also decrease.

When the researchers added plastin 3 back to motor neurons in zebrafish that were genetically altered so they couldn’t produce SMN, the zebrafish regained most of their swimming abilities – movement that had been severely limited by their reduced SMN. These findings tied the presence of plastin 3 – alone, without SMN – to the recovery of lost movement.

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Single Administration of Antisense Oligomer Delivered to the CNS Rescues a Severe Mouse Model of Spinal Muscular Atrophy

December 22, 2011

Single Administration of Antisense Oligomer Delivered to the CNS Rescues a Severe Mouse Model of Spinal Muscular Atrophy

FSMA News | December 22, 2011

The Burghes laboratory at Ohio State University publishes a paper in Human Molecular Genetics showing a single dose of an antisense oligomer (ASO) can greatly benefit survival, weight gain, and motor function in severe mouse model of SMA.

In this study, the authors delivered a bolus ICV injection of anti-sense oligonucleotide (ASO) of morpholino chemistry to alter SMN2 splicing and increase SMN levels. Treated SMA mice had improvement in weight gain, motor activity, and increased survival from 15 days to over 100 days. Delayed CNS delivery (P4) had an intermediate advantage, evidence that earlier CNS treatment yields more robust effects, while delayed peripheral delivery after blood-brain-barrier maturation had only modest increased survival. This suggests that CNS delivery of SMN is key to therapeutic benefit in this SMA mouse model.

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4-year-old needs device to help her breathe

December 16, 2011

4-year-old needs device to help her breathe

Cincinnati.com | December 11, 2011 | By Mark Hansel

Karah Barry’s mind is as sharp as any other 4-year-old’s.

She is bright and personable, reads, participates in a preschool program and plays on a miracle league baseball team.

Karah’s body, however, prevents her from participating in a lot of other activities common to girls of her age.

She has spinal muscular atrophy type 1, commonly referred to as SMA.

Karah cannot walk, talk, sit, or swallow and she is at high risk of acute respiratory failure. She relies on an automatic cough assist machine and a technique called CPT because she has no ability to clear secretions.

“She is a prisoner in her own body,” said Danielle Barry, Karah’s mother.

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Local 8-year-old bound to wheelchair bags first deer

October 10, 2011

Local 8-year-old bound to wheelchair bags first deer

Newark Advocate | October 9, 2011 | By Anna Sudar

BOWLING GREEN TOWNSHIP — There are no ramps in the forest.

The ground is often soggy or full of rocks and holes.

However, that doesn’t stop Cauy Sprankle from rolling through the woods in his power wheelchair to accompany his father, Chris Sprankle, on hunting and fishing trips.

On Sept. 30, the 8-year-old reached an important milestone in the life of any young hunter — killing his first deer.

With the help of his father, Cauy used a crossbow to shoot the doe from his wheelchair.

“It was a big feat for him, Chris said. “But he’s kind of a natural (at hunting).”

A third-grader at Glenford Elementary, Cauy was diagnosed with spinal muscular atrophy when he was 9 months old.

The neuromuscular disease is characterized by a progressive loss of muscle control and movement and increasing weakness.

It hasn’t slowed Cauy down.

“We try to let him do everything a normal kid would do,” Chris said. “He expects it.”

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Local Mom Angry After Special-Needs Camp Sends Son Home

June 15, 2011

Local Mom Angry After Special-Needs Camp Sends Son Home

nbc4i.com | June 14, 2011 | By Candace Lee

REYNOLDSBURG, Ohio — Every four hours 13 year old Trevor Robinett endures at least three treatments to clear his throat and airway of phlegm. Diagnosed at the age of two with Spinal Muscular Atrophy, Trevor is often stuck at home being homeschooled. The only time he interacts with friends is when he play online video games.

However, one a year Trevor goes to camp. He’s been attending the Muscular Dystrophy Association’s week long residential camp since he was 5. Mom Michelle dropped him off Sunday, but hours later got a call from MDA camp staff to come and get her son.

“They told me that didn’t have the resources to take care of him. They said the nurse is uncomfortable with taking care of his needs,” said Michelle Robinett.

Trevor’s mom says his treatments for spinal muscular atrophy have not changed and is shocked her son was sent home early from a camp he looks forward to every year. She offered to send a home health aide, private nurse and herself as long as Trevor could stay.

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