Re: Celiac

[Guest guest]

Celiac can occur in mito--my son is gluten intolerant and has been on a

gluten free diet for 8 1/2 years.

, has Crohn's disease been ruled out? Recently carnitine

transport problems have been linked to Crohn's.

1: Nat Genet. 2004 May;36(5):471-5. Epub 2004 Apr 11.

Functional variants of OCTN cation transporter genes are associated with

Crohn disease.

Crohn disease is a chronic, inflammatory disease of the gastrointestinal

tract. A locus of approximately 250 kb at 5q31 (IBD5) was previously

associated with susceptibility to Crohn disease, as indicated by

increased prevalence of a risk haplotype of 11 single-nucleotide

polymorphisms among individuals with Crohn disease, but the pathogenic

lesion in the region has not yet been identified. We report here that

two variants in the organic cation transporter cluster at 5q31 (a

missense substitution in SLC22A4 and a G-->C transversion in the SLC22A5

promoter) form a haplotype associated with susceptibility to Crohn

disease. These variants alter transcription and transporter functions of

the organic cation transporters and interact with variants in another

gene associated with Crohn disease, CARD15, to increase risk of Crohn

disease. These results suggest that SLC22A4, SLC22A5 and CARD15 act in a

common pathogenic pathway to cause Crohn disease.

2: Biochem Biophys Res Commun. 2003 Jan 31;301(1):98-101.

A third human carnitine/organic cation transporter (OCTN3) as a

candidate for the 5q31 Crohn's disease locus (IBD5).

Organic cation transporters function primarily in the elimination of

cationic drugs in kidney, intestine, and liver. The murine organic

cation/carnitine (Octn) transporter family, Octn1, Octn2, and Octn3 is

clustered on mouse chromosome 11 (NCBI Accession No. NW_000039). The

human OCTN1 and OCTN2 orthologs map to the syntenic IBD5 locus at 5q31,

which has been shown to confer susceptibility to Crohn's disease. We

show that the human OCTN3 protein, whose corresponding gene is not yet

cloned or annotated in the human reference DNA sequence, does indeed

exist and is uniquely involved in carnitine-dependent transport in

peroxisomes. Its functional properties and inferred chromosomal location

implicate it for involvement in Crohn's disease.

[Guest guest]

-

That's very interesting. No, I haven't been evaluated for Crohn's. Can Crohn's present with dysmotility and constipation? I've always heard of Crohn's causing severe abdominal pain and diaherria which is the opposite from me.

Thanks for sharing!