Amino acid transporter gene finding may assist development of gene therapies
Drs. Jean Jiang and Sumin Gu, biochemistry, with Drs. Patricia Camacho and Hywel Roderick, physiology, have identified an amino acid transporter gene that may pave the way for biomedical applications, including diagnosis of inherited diseases and future gene therapies.
The discovery was published in the March 28 edition of the Proceedings of the National Academy of Sciences. The study describes the molecular identity of an amino acid transporter that plays a role in nitrogen metabolism in the liver.
Amino acids transported across the cell membrane provide critical substrates for cell functions. A deficiency in these transporters is known to lead to various diseases, including amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. While many transport systems have been identified, the molecular characteristics of some amino acid transporters remained unknown to scientists, limiting the ability to diagnose hereditary diseases that involve mutations in these transporters.
This study provides the gene encoding for the first member of a family of transporters known as the nitrogen system and determines the unique distribution of this transporter in the liver.
"The discovery of this gene has great potential," said Dr. Jiang. "Now scientists are able to identify mutations and determine if a malfunction causes a disease."
The initial step may result in new therapies for patients suffering from a variety of diseases and may assist the development of new tools for identifying those who are at risk.