What protein is coded for by the CTNS gene?

What protein is coded for by the CTNS gene?

The CTNS gene provides instructions for making a protein called cystinosin. This protein is located in the membrane of lysosomes, which are compartments in the cell that digest and recycle materials.

How does cystinosis cause fanconi?

Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment.

How cystinosis affect the body?

In people with cystinosis, a buildup of cystine can lead to the formation of crystals. Cystinosis can impact many parts of the body, including the eyes, muscles, brain, heart, white blood cells, thyroid, and pancreas. Cystinosis can also cause serious problems with the kidneys.

How is cystinosis diagnosis?

A diagnosis of cystinosis can be confirmed by measuring cystine levels in certain white blood cells (“polymorphonuclear leukocytes”). Urinary examination may reveal excess loss of nutrients including minerals, electrolytes, amino acids, carnitine and water, which is indicative of renal Fanconi syndrome.

What does Ctns stand for?

CTNS

What is Fanconi syndrome?

Fanconi syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead.

What causes crystals behind eyes?

Cystinosis is a rare genetic disorder that causes an accumulation of the amino acid cystine within cells, forming crystals that can build up and damage the cells. These crystals negatively affect many systems in the body, especially the kidneys and eyes.

What organelle is affected by cystinosis?

Cystinosis is characterized by the defective egress of cystine out of cellular organelles called lysosomes……

How long can you live with cystinosis?

Renal allografts and medical therapy targeting the basic metabolic defect have altered the natural hisotry of cystinosis so drastically that patients have a life expectancy extending past 50 years. Consequently, early diagnosis and appropriate therapy are critically important.

What type of doctor treats cystinosis?

A nephrologist is a specialist in kidney disease and is the primary healthcare provider for cystinosis patients.

What does CTM stand for in slang?

First Definition of CTM

How are mutations in the CTNS gene related to cystinosis?

Cystinosis is caused by bi-allelic mutations in the CTNS gene (17p13.2) encoding cystinosin, which is a lysosomal cystine-proton co-transporter. Consequently, cystine accumulates in the lysosomes of affected cells and forms crystals in low lysosomal pH [ 4 ]. So far, over 100 pathogenic mutations have been reported in the literature (Fig. 1 ).

Why does cystinosis occur in the lysosomal compartment?

It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs.

How are the kidneys affected by cystinosis?

Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs. The kidneys are initially affected during the first year of life through proximal tubular damage followed by progressive glomerular damage and end stage renal failure during mid-childhood if not treated.

Who was the first pediatrician to diagnose cystinosis?

This is why cystinosis was initially termed as the Abderhalden-Kaufmann-Lignac syndrome. Guido Fanconi (1892–1979), the Swiss pediatrician, also substantially contributed to the understanding of cystinosis by explaining the urinary substance losing nature of the disease [ 3 ].