International collaboration unravels novel mechanism for neurological disorder

PUBLIC RELEASE DATE:

24-Apr-2014

Contact: Glenna Picton picton@bcm.edu 713-798-4710 Baylor College of Medicine

HOUSTON (April 24, 2014) A team of international scientists led by Baylor College of Medicine has discovered a novel gene (CLP1) associated with a neurological disorder affecting both the peripheral and central nervous systems. Together with scientists in Vienna they show that disturbance of a very basic biological process, tRNA biogenesis, can result in cell death of neural progenitor cells. This leads to abnormal brain development and a small head circumference as well as dysfunction of peripheral nerves.

The study published today in the current issue of the journal Cell.

"This is the first human disorder associated with the gene CLP1," said Dr. Ender Karaca, post-doctoral associate in the department of molecular and human genetics at Baylor.

The gene find is significant because CLP1 has a role in RNA processing and has important implications for genomic approaches to Mendelian disease and for our understanding of human biology and brain development, Karaca said.

Karaca's work with families of this rare disorder began many years ago during his residency training as a clinical geneticist in Turkey.

A chance meeting with Dr. James R. Lupski, the Cullen Professor and Vice Chair of Molecular and Human Genetics and professor of pediatrics at Baylor, at a medical meeting in Istanbul, Turkey would lead to Karaca's recruitment as a trainee in Lupski's lab where the research took off and eventually the team unveiled new clues about the genetic malfunction that may be causing the disorder in these families.

Lupski leads the Center for Mendelian Genomics at Baylor, a joint program with the Johns Hopkins University School of Medicine that is funded by the National Human Genome Research Institute. The Center is focused on advancing research of the cause of rare, single-gene diseases usually called Mendelian disorders.

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International collaboration unravels novel mechanism for neurological disorder