SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families

Noguchi, Atsuko; Shoji, Yutaka; Koizumi, Akio; Takahashi, Tsutomu; Shoji, Yasuko; Matsumori, Mika; Kayo, Tsuyoshi; Ohata, Tomoaki; Wada, Yasuhiko; Yoshimura, Ihoko; Maisawa, Shunichi; Konishi, Mineo; Takasago, Yuhei; Takada, Goro

doi:10.1002/(sici)1098-1004(200004)15:4<367::aid-humu9>3.0.co;2-c

Cited by 30 publications

(11 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The incidence of LPI in Japan is about 1/57 000 1. If we use this incidence rate,there should be about 1500 LPI patients born in china every year.…”

Section: Discussionmentioning

confidence: 99%

“…The complications of the disease can be renal (tubulopathy, renal insufficiency), hematological (pancytopenia, macro‐ phage activation syndrome), bone (osteoporosis), and gastrointestinal. However, the major and life‐threatening complications involve the lung are manifested as PAP and fibrosis 1. Only a few papers have been published about LPI specifically presenting as pulmonary symptoms 2.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance

Zhang

Cao

2017

Pediatric Pulmonology

View full text Add to dashboard Cite

Lysinuric protein intolerance (LPI) is an inherited aminoaciduria with an autosomal recessive mode of inheritance.The first two cases of sisters being diagnosed with LPI in China is contained within this report. In our cases, there were two heterozygous mutations in the SLC7A7 gene of the two sisters: deletion of c.1387: del C and IVS4+1C>T. One patient was treated with inhaled rGM‐CSF for 1.5 years at 5 μg/kg two times a day. Her condition is improving with no side effects.

show abstract

“…The incidence of LPI in Japan is about 1/57 000 1. If we use this incidence rate,there should be about 1500 LPI patients born in china every year.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance

Zhang

Cao

2017

Pediatric Pulmonology

View full text Add to dashboard Cite

show abstract

“…It is generally accepted that the y þ L light chain y+LAT1 is the subunit expressed in absorbing epithelia, while the alternative isoform y+LAT2 would be preferentially expressed in non-epithelial tissues [4]. However, it is known that y+LAT1 also is expressed in non-epithelial cells, such as human fibroblasts [16], human endothelial cells [13], and leukocytes [11,12,15]. This contribution not only demonstrates that SLC7A7/y+LAT1 is clearly expressed by human monocytes but also shows the stimulation of its expression by IFNc, a thus far unknown effect of the cytokine.…”

Section: Discussionmentioning

confidence: 99%

INFγ stimulates arginine transport through system y⁺L in human monocytes

et al. 2004

View full text Add to dashboard Cite

Freshly isolated human monocytes transport L L -arginine mostly through a sodium independent, NEM insensitive pathway inhibited by L L -leucine in the presence, but not in the absence of sodium. Interferon-c (IFNc) stimulates this pathway, identifiable with system y þ L, and markedly enhances the expression of SLC7A7, the gene that encodes for system y þ L subunit y+LAT1, but not of SLC7A6, that codes for the alternative subunit y+LAT2. System y þ plays a minor role in arginine uptake by monocytes and the expression of system y þ -related genes, SLC7A1 and SLC7A2, is not changed by IFNc. These results demonstrate that system y þ L is sensitive to IFNc.

show abstract

“…The polyA site is located in position 2,447 of the SLC7A7 cDNA. The human SLC7A7 gene (GenBank database accession number NT_026437) contains 11 exons and 10 introns, spanning ∼46.5 kb of genomic DNA in minus strand orientation [Mykkanen et al, 2000; Noguchi et al, 2000; Sperandeo et al, 2000] on 14q11.2. The codon for the translation‐initiator methionine (Met1) is located in exon 3, whereas the termination codon is located in exon 11.…”

Section: Molecular Bases Of Lpimentioning

confidence: 99%

Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

Sebastio

Sperandeo

Andria³

2011

American J of Med Genetics Pt C

107

View full text Add to dashboard Cite

Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. LPI is caused by mutations in the SLC7A7 gene, which encodes the y(+)LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family. LPI was initially described in Finland, but has worldwide distribution. Typically, symptoms begin after weaning with refusal of feeding, vomiting, and consequent failure to thrive. Hepatosplenomegaly, hematological anomalies, neurological involvement, including hyperammonemic coma are recurrent clinical features. Two major complications, pulmonary alveolar proteinosis and renal disease are increasingly observed in LPI patients. There is extreme variability in the clinical presentation even within individual families, frequently leading to misdiagnosis or delayed diagnosis. This condition is diagnosed by urine amino acids, showing markedly elevated excretion of lysine and other dibasic amino acids despite low plasma levels of lysine, ornithine, and arginine. The biochemical diagnosis can be uncertain, requiring confirmation by DNA testing. So far, approximately 50 different mutations have been identified in the SLC7A7 gene in a group of 142 patients from 110 independent families. No genotype-phenotype correlation could be established. Therapy requires a low protein diet, low-dose citrulline supplementation, nitrogen-scavenging compounds to prevent hyperammonemia, lysine, and carnitine supplements. Supportive therapy is available for most complications with bronchoalveolar lavage being necessary for alveolar proteinosis.

show abstract

SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families

Cited by 30 publications

References 7 publications

New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance

New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance

INFγ stimulates arginine transport through system y⁺L in human monocytes

Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

Contact Info

Product

Resources

About

SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families

Cited by 30 publications

References 7 publications

New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance

New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance

INFγ stimulates arginine transport through system y+L in human monocytes

Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

Contact Info

Product

Resources

About

INFγ stimulates arginine transport through system y⁺L in human monocytes