Dr. Gordon’s Comments – germline variants & sialic acid in autoimmunity
By Linda on Oct 19, 2010 in Infections | comments(0)
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.www.gordonresearch.com
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
Full article: http://www.ncbi.nlm.nih.gov/sites/entrez/20555325?dopt=Abstract&holding=f1000,f1000m,isrctn
Excerpt:
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.
