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Related Concept Videos

Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Renal Corpuscle01:20

Renal Corpuscle

The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous capillaries...
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2).

Y Kawamura1, H Matsuo, T Chiba

  • 1Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.

Nucleosides, Nucleotides & Nucleic Acids
|December 3, 2011
PubMed
Summary
This summary is machine-generated.

Mutations in the GLUT9 gene cause renal hypouricemia type 2 (RHUC2), leading to low uric acid levels and kidney complications. This discovery offers potential therapeutic targets for gout and cardiovascular diseases.

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Published on: July 14, 2016

Area of Science:

  • Genetics
  • Nephrology
  • Biochemistry

Background:

  • Renal hypouricemia is an inherited disorder with low serum uric acid, causing acute renal failure and kidney stones.
  • Mutations in URAT1/SLC22A12 cause renal hypouricemia type 1 (RHUC1).

Purpose of the Study:

  • To identify genetic mutations responsible for renal hypouricemia.
  • To elucidate the role of GLUT9/SLC2A9 in renal urate reabsorption.

Main Methods:

  • Analysis of a large health-examination database.
  • Identification and characterization of GLUT9/SLC2A9 mutations (R198C and R380W).
  • Oocyte expression studies to assess urate transport function of GLUT9 mutants.

Main Results:

  • Two missense mutations in GLUT9 (R198C and R380W) were found in hypouricemia patients.
  • These GLUT9 mutations significantly reduced urate transport.
  • Findings suggest these mutations cause renal hypouricemia type 2 (RHUC2) due to decreased urate reabsorption.

Conclusions:

  • GLUT9 mutations are a cause of renal hypouricemia type 2.
  • A physiological model for renal urate reabsorption involving GLUT9 and URAT1 is proposed.
  • These findings may lead to new therapeutic targets for gout and related cardiovascular diseases.