CPT espanol



CPT espanol

Researchers in Madrid have identified the S113L mutation in 8 of 14 Spanish patients with CPT II deficiency, which makes it the most common CPT II mutation found in that population.

Seven patients were homozygous for the mutation, meaning they each carried two copies of S113L. One patient was heterozygous, carrying only one copy of S113L. Six patients did not have S113L at all, but presumably carry other CPT II mutations. The Y628S mutation was identified in one of these patients.

In addition, seven relatives of the patients from three different families carried one copy of the S113L mutation, but none had symptoms.

A recent report from researchers in Madrid announced three new mutations that have been found in Spanish patients with CPT deficiency.

Y120C

36-38 insGC

I502T

The investigators suggest that ethnic origin should be considered before performing mutation analysis in these patients.

Reference: Martin MA et al. Hum Mutat 2000 15(6):579-80

Reference:
Martin MA et al. Muscle Nerve 1999 22(7):941-3

Related links:
Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency
Case study from Belgium.

Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood
Study that includes a group of patients with the S113L mutation.

To view a list of known CPT mutations with links to the original reports, visit Keep the change.

To learn about a new method of screening patients for mutations in the CPT2 gene, visit On the spot.

For an up-to-date report on the Human Genome Project--which is attempting to map the human genetic "blueprint"--visit Location, location, location.

Genes give coded instructions to the cell on how to assemble proteins. The making of a protein from this code is called "gene expression."

Many human disorders are caused by genetic flaws, or by the absence of one or more genes. Researchers hope to identify all the genes that play a role in human disorders.

Once a gene has been linked to a human disorder, researchers hope to learn how to manipulate, correct or replace that flawed gene, or the protein it expresses, in order to treat the disorder.