After studying leukemia, cancer researchers at the University of South Alabama Mitchell Cancer Institute (MCI) confirmed that a mutation in a gene called SON leads to a neurodevelopmental disorder that produces intellectual disability, impaired vision and facial abnormalities in children.
The new ailment — officially labeled as Tokita-Kim Syndrome but better known as ZTTKS — now bears the name of one of the MCI researchers, Jung-Hyun Kim, Ph.D., a postdoctoral fellow in the lab of Erin Ahn, Ph.D., associate professor of oncologic sciences. Their research, published in August, confirmed the gene is a “master regulator” governing neurodevelopment and that a mutation in its structure can result in ZTTKS.
“Identifying a previously unknown cause for a syndrome and having that syndrome named after a team member in your laboratory is quite an accomplishment,” Laurie Owen, Ph.D., MCI associate director for basic and translational sciences, said.
Ahn had researched the SON gene since 2004 as a postdoctoral fellow at the University of California San Diego. Recently she confirmed it was linked to leukemia and the findings were published in a prominent medical journal last spring. She came to MCI in 2012, and Kim joined her lab in 2013.
According to Owen, Ahn and Kim’s work illustrates the importance of conducting basic scientific research, following where it leads and ultimately applying it in a health care setting.
“The ZTTKS story underscores the inherent value of basic cancer research being applied to solve an unrelated problem related to the underlying molecular basis for a neurodevelopmental disorder in children,” Owen said.
Per a news release, the researchers collaborated with clinicians, genetic counselors and clinical genomics scientists from across the United States and Europe.
The MCI research encompassed 20 unrelated patients, all of whom had delayed language development, learning disabilities and facial abnormalities, including low-set ears, deep-set eyes, horizontal eyebrows and a depressed nose bridge. Brain MRI tests revealed other irregularities. Some of the children suffered from seizures. Others had scoliosis or vision problems.
The new discovery occurred after a clinician at Valley Children’s Hospital in Madera, California, and the clinical genomics team at Ambry Genetics near Irvine, California, reached out to Ahn because of her past work. Using DNA sequencing technology, the physicians at Valley, together with Ambry, had discovered a mutation in the SON gene of a 5-year-old girl with developmental disabilities. The mutation, they found, had not been inherited from her parents.
Ahn and her lab discovered SON plays a key role in the way a cell translates DNA into protein. She explains it this way: If there’s a mutation in the SON gene, the ensuing SON protein can become compromised and cause mistakes in RNA editing.
Eventually four separate academic groups published on the subject, spurring the four-initial name for the new syndrome. Kim and Ahn’s article in the September 2016 issue of The American Journal of Human Genetics documented how many patients presented with unusual facial features, visual problems, a loss of white matter shown in brain imaging and musculoskeletal abnormalities.
Among the four publications, Kim and Ahn’s article was the only one to describe the underlying molecular mechanisms.
Richard Myers, Ph.D., president of the HudsonAlpha Institute for Biotechnology in Huntsville and one of the research collaborators, estimated that 30 million people suffer from rare diseases, the majority of which have no known cause.
Now that the human genome can be sequenced, Myers said, scientists and physicians are able to pinpoint a genetic cause in many cases.
“One reason why this is so exciting is that we couldn’t do this four or five years ago,” he said. “We really are entering a new era of genomic medicine.”
“In research, you can never predict where the experimental results are ultimately going to take you,” Owen said. “But the real magic happens when you have researchers who are thinking outside the box, willing to collaborate across disciplines, communicate openly and share data. That is the essence of team science.”
Providence hosts military fellowship
Providence Hospital is the first hospital in Mobile to partner with the U.S. Chamber of Commerce Foundation as a host facility for the new Hiring Our Heroes Corporate Fellowship program.
The program is designed to train active-duty service members in the job skills needed to transition into management positions in the civilian sector. Participants undergo a week of corporate training followed by 11 weeks of on-the-job training with a host company along with classroom corporate education. Upon completion of the 12-week program, service members have expanded their credentials and marketability.
“We are proud and honored to be a part of this innovative program that helps long-term service members explore civilian careers they’re interested in,” Jamey Greer, executive director of operations at Providence Hospital, said. “Military personnel are a perfect fit for hospitals. Who better to run your security than a military person? Military personnel make excellent facility managers as well. It’s an easy fit and a win-win for everybody.”
Founded in 1854 and based in Mobile, Providence Hospital offers 349 beds and comprehensive health care for emergency, cardiovascular, cancer, orthopedics, obstetrics and surgical services, as well as an outpatient diagnostic center and a freestanding rehabilitation and wellness center.
Jenkins joins NAI-Mobile
NAI Mobile recently announced John Thomas “JT” Jenkins has been hired as a commercial sales and leasing consultant for the firm. Jenkins enjoyed a distinguished career in law enforcement with the state of Alabama, serving as chief enforcement officer for the Marine Resources Division, later as director of Alabama Marine Police and concluding his state service as deputy director of the Alabama Department of Homeland Security.
His meritorious record of service was recognized by the state of Alabama when he was awarded the Alabama Legislative Medal of Honor.
“In a previous career, I had the opportunity to work alongside JT and the Marine Resources Division,” David Dexter, co-founding principal of NAI Mobile, said. “It is our good fortune to have such a dedicated and determined individual working with our team today.”
“I look forward to learning the trade and providing a high level of service to my clients,” Jenkins said. He is currently working retail, industrial and professional office assignments and also brings a particular interest in rural acreage tracts.
This page is available to subscribers. Click here to sign in or get access.
It looks like you are opening this page from the Facebook App. This article needs to be opened in the browser.
iOS: Tap the three dots in the top right, then tap on "Open in Safari".
Android: Tap the Settings icon (it looks like three horizontal lines), then tap App Settings, then toggle the "Open links externally" setting to On (it should turn from gray to blue).