The Department of Biochemistry and Molecular Biology is pleased to congratulate Dr. Michael Kilberg, Dr. Robert McKenna and graduate students, Carrie Lomelino and Jacob Andring, on the publication of their co-authored review article, Asparagine synthetase: Function, structure, and role in disease, in the prestigious Journal of Biological Chemistry, which is the journal of the American Society for Biochemistry and Molecular Biology.
Dr. Kilberg’s laboratory has been involved in characterizing a relatively new disease that results from mutations in the asparagine synthetase gene. These mutations cause an inborn error of metabolism referred to as Asparagine Synthetase Deficiency (ASD). Children born with this disease cannot synthesize the amino acid asparagine, which has many ramifications for protein synthesis and metabolism. It is a rare, but devastating, disease. These children are born with microencephaly (small brain due to abnormal development), and the brain continues to shrink during their short life span of typically less than 10 years. They also exhibit epileptic-like seizures throughout their life. Dr. Kilberg’s research has focused on characterizing the growth and signaling properties of fibroblasts from three patients and their parents to understand why the brain does not develop in the womb and withers with age after birth. One paper was published in 2015 with physicians from Australia regarding a child with the disease and recently, a second manuscript was published with a group at Harvard describing two siblings with ASD.
There is no test for this affliction yet, and thus, the disease also serves as an illustration to physicians of the current ability to identify rare and unknown diseases by genome or exome sequencing.
Dr. McKenna, Carrie and Jacob were involved in molecular modeling for the second paper, and, at Dr. McKenna’s suggestion, helping to write a review on this newly emerging disease, The review was chosen to be highlighted on the cover of the December 8 JBC issue, and Dr. Kilberg was just notified that the paper has far surpassed the average number of views – in October and November, prior to the official publication date, it was viewed 336 times on the JBC website. View the full article here.