A relatively common defect involving Sialic acid –sets the stage for
patients to develop autoimmune related illnesses! I continue to discuss my FIGHT
program, as the best way to approach any autoimmune related condition.
Possibly, in the future, with evidence this strong, genetic testing for
this variant could lead to patients being advised to go on my FIGHT program
before they have the symptoms of one of the over 100 different autoimmune
related conditions. The best statistics today indicate that over 40% of us
have difficulty with either dairy or gluten. So, before we start seeing
auto-antibodies to our tissues, those with this variant might want to eliminate
those foods and do the rest of the FIGHT program too.
Garry F. Gordon MD,DO,MD(H)
President, Gordon Research Institute
www.gordonresearch.com
http://www.ncbi.nlm.nih.gov/sites/entrez/20555325?dopt=Abstract&holding=f100
0,f1000m,isrctn
Nature. 2010 Jul 8;466(7303):243-7. Epub 2010 Jun 16.
Functionally defective germline variants of sialic acid acetylesterase in
autoimmunity.
Surolia I, Pirnie SP, Chellappa V, Taylor KN, Cariappa A, Moya J, Liu H,
Bell DW, Driscoll DR, Diederichs S, Haider K, Netravali I, Le S, Elia R, Dow
E, Lee A, Freudenberg J, De Jager PL, Chretien Y, Varki A, Macdonald ME,
Gillis T, Behrens TW, Bloch D, Collier D, Korzenik J, Podolsky DK, Hafler D,
Murali M, Sands B, Stone JH, Gregersen PK, Pillai S.
Cancer Center, Massachusetts General Hospital, Harvard Medical School,
Boston, Massachusetts 02114, USA.
Abstract
Sialic acid acetylesterase (SIAE) is an enzyme that negatively regulates B
lymphocyte antigen receptor signalling and is required for the maintenance
of immunological tolerance in mice. Heterozygous loss-of-function germline
rare variants and a homozygous defective polymorphic variant of SIAE were
identified in 24/923 subjects of European origin with relatively common
autoimmune disorders and in 2/648 controls of European origin. All
heterozygous loss-of-function SIAE mutations tested were capable of functioning in a
dominant negative manner. A homozygous secretion-defective polymorphic
variant of SIAE was catalytically active, lacked the ability to function in a
dominant negative manner, and was seen in eight autoimmune subjects but in no
control subjects. The odds ratio for inheriting defective SIAE alleles was
8.6 in all autoimmune subjects, 8.3 in subjects with rheumatoid arthritis,
and 7.9 in subjects with type I diabetes. Functionally defective SIAE rare
and polymorphic variants represent a strong genetic link to susceptibility
in relatively common human autoimmune disorders.
PMID: 20555325 [PubMed - indexed for MEDLINE]PMCID: PMC2900412 [Available
on 2011/1/1]
[Non-text portions of this message have been removed]
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