2/26/2015 Peter Durantine

Researchers Find Link Between Gene Mutations and Rare Developmental Disorder

This magazine article is part of Winter 2015 / Issue 80

A team of student researchers led by an F&M neuroscience professor and two colleagues from the Clinic for Special Children discovered a link between gene mutations and a rare recessive disorder that affects development of the brain, eyes, teeth, ears and bones of children. Particularly affected are those in tight-knit ethnic groups such as Mennonites and the Amish.

The team’s three years of research—funded in part by the Howard Hughes Medical Institute, Benecon and ConnectCare3—included collaboration with other researchers in the United States and Canada. The authors reported their findings in the Jan. 8, 2015, issue of The American Journal of Human Genetics. 

  • genetic researchers

F&M Professor of Neuroscience Robert Jinks headed the team, which included neuroscience majors Alanna Koehler ’15 and Madeleine McGlincy ’15, and alumnae Abigail Benkert ’13, Anni Zhu ’13 and Victoria Trovillion ’14. “This is a significant accomplishment for the students and for the College,” Jinks said. “It gives our students the opportunity to use what they learned over the entirety of their education at F&M to solve an open-ended biomedical research question that is important to our local communities and health care in general.”

Jinks and the students collaborated with Adjunct Associate Research Professors Erik Puffenberger and Kevin Strauss, who led the research at the F&M–affiliated Clinic for Special Children in nearby Strasburg, Pa. The clinic first identified the LONP1 gene mutations in Lancaster County Amish children affected with CODAS syndrome, and later in other children of Mennonite and mixed European descent in Canada.

Under Puffenberger’s direction, the clinic used genetic sequencing and mapping to identify LONP1. Jinks and the students then analyzed the impact of the four mutations at the protein and cellular level.

CODAS—for cerebral, ocular, dental, auricular, skeletal syndrome—was first described in 1991 as a constellation of developmental disorders, including intellectual impairment, cataracts, hearing loss, short stature, and other developmental disorders. CODAS syndrome is inherited as a recessive disorder, Jinks said. Children display the disorder only when they inherit the mutated LONP1 gene from both parents. Until now, the cause of CODAS syndrome was unknown.

At the cellular level, the research team determined that the gene mutations impaired the function of the protein that is critical to regulating our cells’ energy-producing mitochondria. Benkert, Koehler and McGlincy discovered that the CODAS-causing mutation in Amish children hinders that regulation. Trovillion then used transmission electron microscopy to demonstrate that the normal structure of the mitochondria is altered significantly in Amish CODAS patient cells.

“It’s been an incredible, life-changing experience,” said Koehler, who “had never thought about doing research before coming to F&M” and is now planning graduate study in molecular medicine or pathology.

“Our students contributed substantially to something that will eventually help people with CODAS syndrome around the world,” Jinks said. 

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