Amino acid transporter gene finding may assist development of gene therapies

UTHSC researchers (from left) Dr. Sumin Gu, Dr. Patricia Camacho, Dr. Jean Jiang  (seated), and Dr. Hywel Roderick

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.