Re: Any thoughts on this?

[Guest guest]

My other daughter has a mitochondrial disorder (MCADD) but we have

been told it is completely unrelated. The doctor said, " lightening

sometimes strikes twice in the same place " . I will be interested to

see what you find.

mom to Pearl PSC/AIH/Crohn's and 3 other great kids!

[Guest guest]

Hi ;

Thanks for the links. There does seem to be some similarity between

PSC and the PFIC disease(s) described on the CLiC web site:

http://rarediseasesnetwork.epi.usf.edu/clic/physicians/pfic.htm

The MDR3 disease (PFIC3) seems to be somewhat similar; in fact the

the equivalent gene knockout in mice (Mdr2-/-) develops sclerosing

cholangitis resembling PSC:

Fickert P, Fuchsbichler A, Wagner M, Zollner G, Kaser A, Tilg H,

Krause R, Lammert F, Langner C, Zatloukal K, Marschall HU, Denk H,

Trauner M 2004 Regurgitation of bile acids from leaky bile ducts

causes sclerosing cholangitis in Mdr2 (abcb4) knockout mice.

Gastroenterology 127: 261-274.

http://www.ncbi.nlm.nih.gov/pubmed/15236191

Trauner has suggested that this gene may be important as

a " modifier " gene in human PSC:

Trauner M, Fickert P, Wagner M 2007 MDR3 (ABCB4) defects: a paradigm

for the genetics of adult cholestatic syndromes. Semin. Liver Dis.

27: 77-98.

http://www.ncbi.nlm.nih.gov/pubmed/17295178

The recipient of the PSC Partners Seeking a Cure 2007 AASLD research

award, Karlsen, has been looking at MDR3 and other bile

transporters for possible associations with PSC susceptibility and

severity/progression. He finds that MDR3 may be interacting with

another transporter, OSTalpha (organic solute transporter-alpha), to

determine PSC susceptibility and progression:

http://www.psc-literature.org/2007PSCPartnersAward.htm

It must be more complex than this, however, because of the strong

genetic association with PSC and the human leukocyte antigen (HLA)

complex ... thus, there may also be an (auto)immune component to PSC,

most likely tied to inflammatory bowel disease?

Best regards,

Dave

(father of (23); PSC 07/03; UC 08/03)

> Since I'm still learning about PSC, does anyone have an opinion on

> this?

[Guest guest]

Hi ;

Thanks for the links. There does seem to be some similarity between

PSC and the PFIC disease(s) described on the CLiC web site:

http://rarediseasesnetwork.epi.usf.edu/clic/physicians/pfic.htm

The MDR3 disease (PFIC3) seems to be somewhat similar; in fact the

the equivalent gene knockout in mice (Mdr2-/-) develops sclerosing

cholangitis resembling PSC:

Fickert P, Fuchsbichler A, Wagner M, Zollner G, Kaser A, Tilg H,

Krause R, Lammert F, Langner C, Zatloukal K, Marschall HU, Denk H,

Trauner M 2004 Regurgitation of bile acids from leaky bile ducts

causes sclerosing cholangitis in Mdr2 (abcb4) knockout mice.

Gastroenterology 127: 261-274.

http://www.ncbi.nlm.nih.gov/pubmed/15236191

Trauner has suggested that this gene may be important as

a " modifier " gene in human PSC:

Trauner M, Fickert P, Wagner M 2007 MDR3 (ABCB4) defects: a paradigm

for the genetics of adult cholestatic syndromes. Semin. Liver Dis.

27: 77-98.

http://www.ncbi.nlm.nih.gov/pubmed/17295178

The recipient of the PSC Partners Seeking a Cure 2007 AASLD research

award, Karlsen, has been looking at MDR3 and other bile

transporters for possible associations with PSC susceptibility and

severity/progression. He finds that MDR3 may be interacting with

another transporter, OSTalpha (organic solute transporter-alpha), to

determine PSC susceptibility and progression:

http://www.psc-literature.org/2007PSCPartnersAward.htm

It must be more complex than this, however, because of the strong

genetic association with PSC and the human leukocyte antigen (HLA)

complex ... thus, there may also be an (auto)immune component to PSC,

most likely tied to inflammatory bowel disease?

Best regards,

Dave

(father of (23); PSC 07/03; UC 08/03)

> Since I'm still learning about PSC, does anyone have an opinion on

> this?

[Guest guest]

Hi ;

Thanks for the links. There does seem to be some similarity between

PSC and the PFIC disease(s) described on the CLiC web site:

http://rarediseasesnetwork.epi.usf.edu/clic/physicians/pfic.htm

The MDR3 disease (PFIC3) seems to be somewhat similar; in fact the

the equivalent gene knockout in mice (Mdr2-/-) develops sclerosing

cholangitis resembling PSC:

Fickert P, Fuchsbichler A, Wagner M, Zollner G, Kaser A, Tilg H,

Krause R, Lammert F, Langner C, Zatloukal K, Marschall HU, Denk H,

Trauner M 2004 Regurgitation of bile acids from leaky bile ducts

causes sclerosing cholangitis in Mdr2 (abcb4) knockout mice.

Gastroenterology 127: 261-274.

http://www.ncbi.nlm.nih.gov/pubmed/15236191

Trauner has suggested that this gene may be important as

a " modifier " gene in human PSC:

Trauner M, Fickert P, Wagner M 2007 MDR3 (ABCB4) defects: a paradigm

for the genetics of adult cholestatic syndromes. Semin. Liver Dis.

27: 77-98.

http://www.ncbi.nlm.nih.gov/pubmed/17295178

The recipient of the PSC Partners Seeking a Cure 2007 AASLD research

award, Karlsen, has been looking at MDR3 and other bile

transporters for possible associations with PSC susceptibility and

severity/progression. He finds that MDR3 may be interacting with

another transporter, OSTalpha (organic solute transporter-alpha), to

determine PSC susceptibility and progression:

http://www.psc-literature.org/2007PSCPartnersAward.htm

It must be more complex than this, however, because of the strong

genetic association with PSC and the human leukocyte antigen (HLA)

complex ... thus, there may also be an (auto)immune component to PSC,

most likely tied to inflammatory bowel disease?

Best regards,

Dave

(father of (23); PSC 07/03; UC 08/03)

> Since I'm still learning about PSC, does anyone have an opinion on

> this?