✦ LIBER ✦

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene

✍ Scribed by Maria Pia Sperandeo; Generoso Andria; Gianfranco Sebastio

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 265 KB
Volume: 29
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.20589

No coin nor oath required. For personal study only.

✦ Synopsis

Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in the 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. Coexpression of 4F2hc (the heavy chain subunit) and y(+)LAT-1 induces y(+)L activity (CAA transport). So far a total of 43 different mutations of the SLC7A7 gene, nine of which newly reported here, have been identified in a group of 130 patients belonging to at least 98 independent families. The mutations are distributed along the entire gene and include all different types of mutations. Five polymorphisms within the SLC7A7 coding region and two variants found in the 5'UTR have been identified. A genuine founder effect mutation has been demonstrated only in Finland, where LPI patients share the same homozygous mutation, c.895-2A>T. LPI patients show extreme variability in clinical presentation, and no genotype-phenotype correlations have been defined. This phenotypic variability and the lack of a specific clinical presentation have caused various misdiagnoses. At the biochemical level, the elucidation of SLC7A7 function will be necessary to understand precise disease mechanisms and develop more specific and effective therapies. In this review, we summarize the current knowledge of SLC7A7 mutations and their role in LPI pathogenesis.

📜 SIMILAR VOLUMES

Lysinuric protein intolerance: identific

Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene

✍ Maria Pia Sperandeo; Patrizia Annunziata; Virginia Ammendola; Valentina Fiorito; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB

Lysinuric protein intolerance (LPI) is an inherited hyperdibasic aminoaciduria caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in the intestine and kidney. LPI is relatively common in Finland and a few clusters of patients are known in Italy an

Five novel SLC7A7 variants and y+L gene-

Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance

✍ Yutaka Shoji; Atsuko Noguchi; Yasuko Shoji; Mika Matsumori; Yuhei Takasago; Masa 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 154 KB

Two distinct human light subunits of the heteromeric amino acid transporter, y+LAT-1 coded by SLC7A7 and y+LAT-2 coded by SLC7A6, are both known to induce transport system y+L activity. SLC7A7 has already been identified as the gene responsible for lysinuric protein intolerance (LPI). We successfull

Primary hyperoxaluria type 1: update and

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene

✍ Emma L. Williams; Cecile Acquaviva; Antonio Amoroso; Francoise Chevalier; Marion 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 243 KB

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive, inherited disorder of glyoxylate metabolism arising from a deficiency of the alanine:glyoxylate aminotransferase (AGT) enzyme, encoded by the AGXT gene. The disease is manifested by excessive endogenous oxalate production, which leads to

Genetic etiology of Parkinson disease as

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

✍ Karen Nuytemans; Jessie Theuns; Marc Cruts; Christine Van Broeckhoven 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 290 KB 👁 2 views

To date, molecular genetic analyses have identified over 500 distinct DNA variants in five disease genes associated with familial Parkinson disease; α-__synuclein__ (__SNCA__), __parkin__ (__PARK2__), __PTEN-induced putative kinase 1__ (__PINK1__), __DJ-1__ (__PARK7__), and __Leucine-rich repeat kin

Protein C deficiency: Identification of

Protein C deficiency: Identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families

✍ José Manuel Soria; Jordi Fontcuberta; Montserrat Borrell; Xavier Estivill; Núria 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 337 KB

We have applied single-strand conformation polymorphism (SSCP) to the analysis of exon 7 of the anticoagulant protein C (PC) gene, in 13 PC-deficient Spanish families. Abnormal patterns were visualized in three samples from type I or quantitative PC deficient proposita. A previously undescribed muta

Mutation and expression analyses of the

Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder

✍ A. Chiocchetti; G. Pakalapati; E. Duketis; S. Wiemann; A. Poustka; F. Poustka; S 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 147 KB 👁 2 views