Cystinosis is a rare autosomal recessive disorder characterized by lysosomal cystine accumulation due to loss of function of the lysosomal cystine transporter (CTNS). The most common mutation in cystinosis patients of Northern Europe consists of a 57-kb deletion. This deletion not only inactivates the CTNS gene but also extends into the non-coding region upstream of the start codon of the TRPV1...

In the September 2009 issue of Blood, Syres et al. [1] report on syngeneic bone marrow cell (BMC) and haematopoietic stem cell (HSC) therapy as a successful treatment in a mouse model of cystinosis, an autosomal recessive metabolic disease caused by a defect in the transport of cystine across the lysosomal membrane. The accumulation of cystine crystals in lysosomes leads to a multi-organ dysfun...

Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. The defective gene is CTNS encoding the lysosomal cystine transporter, cystinosin. Cystine accumulates in every organ in the body and leads to organ damage and dysfunction, including renal defects. Using the murine model for cystinosis, Ctns(-/-) mice, we performed syngeneic bone ma...

Cystinosis, an autosomal recessive disorder of lysosomal cystine accumulation, results from mutations in the CTNS gene that encodes the lysosomal cystine transporter, cystinosin. Renal tubular Fanconi syndrome occurs in infancy, followed by rickets, growth retardation, photophobia, and renal failure, which requires renal transplantation at approximately 10 yr of age. Treatment with cysteamine d...

ITNs are widely promoted as means of preventing manvector contact in the control of malaria. Development of Long Lasting Insecticidal Nets (LLINs) avoids the need for re-treatment which was a major operational problem faced by net owners. There are, however several factors which affect the efficacy of ITNs. Washing is one among the factors affecting the efficacy of ITNs by reducing the lethal c...

Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information. During studies directed toward population frequency assessments of cystinosis, a rare heritable disorder, we sequenced the CTNS gene from 14 cystinosis-related s...

Lysosomes are intracellular sacs of enzymes that are responsible for the digestion of macromolecules. The products of the hydrolytic digestion process then leave the lysosome via specific transporters in its membrane, to be either reused by the cell or excreted outwards. The general consensus about cystinosis has been that it is an inherited multi-systemic disease resulting from failure of lyso...