A candidate mouse model for Hartnup Disorder deficient in neutral amino acid transport

1997 ◽  
Vol 8 (2) ◽  
pp. 102-107 ◽  
Author(s):  
D. J. Symula ◽  
A. Shedlovsky ◽  
E. N. Guillery ◽  
W. F. Dove
Keyword(s):  
Amino Acid ◽  
Mouse Model ◽  
Amino Acid Transport ◽  
Neutral Amino Acid ◽  
Acid Transport ◽  
Hartnup Disorder

Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder

2005 ◽  
Vol 33 (1) ◽  
pp. 233-236 ◽  
Author(s):  
S. Bröer ◽  
J.A. Cavanaugh ◽  
J.E.J. Rasko
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Amino Acid Transport ◽  
Neutral Amino Acid ◽  
Electrophysiological Recording ◽  
Candidate Gene Approach ◽  
Acid Transport ◽  
Japanese Family ◽  
Transporter Family ◽  
Hartnup Disorder

Hartnup disorder is an autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport. A corresponding transport activity has been characterized in kidney and intestinal cells and named system B0. The failure to resorb amino acids in this disorder is thought to be compensated by a protein-rich diet. However, in combination with a poor diet and other factors, more severe symptoms can develop in Hartnup patients, including a photosensitive pellagra-like skin rash, cerebellar ataxia and other neurological symptoms. Homozygosity mapping in a Japanese family and linkage analysis on six Australian pedigrees placed the Hartnup disorder gene at a locus on chromosome 5p15. This fine mapping facilitated a candidate gene approach within the interval, which resulted in the cloning and characterization of a novel member of the sodium-dependent neurotransmitter transporter family (B0AT1, SLC6A19) from mouse and human kidney, which shows all properties of system B0. Flux experiments and electrophysiological recording showed that the transporter is Na+ dependent and Cl− independent, electrogenic and actively transports most neutral amino acids. In situ hybridization showed strong expression in intestinal villi and in the proximal tubule of the kidney. Expression of B0AT1 was restricted to kidney, intestine and skin. A total of ten mutations have been identified in SLC6A19 that co-segregate with disease in the predicted recessive manner, with the majority of affected individuals being compound heterozygotes. These mutations lead to altered neutral amino acid transport function compared to the wild-type allele in vitro. One of the mutations occurs in members of the original Hartnup family described in 1956, thereby defining SLC6A19 as the ‘Hartnup’-gene.

Neutral amino acid transport in embryonal carcinoma cells

1985 ◽  
Vol 122 (3) ◽  
pp. 379-386 ◽  
Author(s):  
John S. Zuzack ◽  
Richard J. Tasca ◽  
Stephen M. DiZio
Keyword(s):  
Amino Acid ◽  
Amino Acid Transport ◽  
Embryonal Carcinoma ◽  
Carcinoma Cells ◽  
Neutral Amino Acid ◽  
Embryonal Carcinoma Cells ◽  
Acid Transport

scholarly journals Basic and Neutral Amino Acid Transport in Aspergillus nidulans

1976 ◽  
Vol 92 (1) ◽  
pp. 89-96 ◽  
Author(s):  
M. PIOTROWSKA ◽  
P. P. STEPIEN ◽  
E. BARTNIK ◽  
P. STEPIEN ◽  
E. BARTNIK ◽  
...  
Keyword(s):  
Amino Acid ◽  
Aspergillus Nidulans ◽  
Amino Acid Transport ◽  
Neutral Amino Acid ◽  
Acid Transport
Sign in / Sign up

Export Citation Format

Share Document