ACAT is Acetyl-Coenzyme A Acetyltransferase [ACAT] [mitochondria]
A block at this point in [ACAT] can lead to increased levels of MMA (Methylmalonic Acid)." ...."MMA may inhibit Succinate CoQ Reductase. The enzyme succinate CoQ Reductase is important in electron transport."
Methylmalonic Acid [MMA] is related to Vitamin B12 biochemistry.
#ACAT is treated with Adenosylcobalmin (for high MMA), bile salts, policosanol, pancreatic enzymes, vitamin K, vitamin E, lactoferrin, nucleotides, and CQ10. ...but which ones, how much and how long you take each of these (if at all) depends on your other mutations as well as biochemical testing. Things you want to monitor ... ..more
COMT, GAD, MAOA/B and addressing methylation too soon can definitely cause neuro-psych issues, but it all comes back to methyl pooling. SNPs in these genes can also contribute: ACE, DAO, MTHFR (e.g., A1298C). Homozygous or 'AA' results for COMT V158M is particularly associated with anxiety & startle response. Quite a few SNPs & quite a few medical conditions can contribute to anxiety, of course (e.g., gut health & bacteria resulting in toxin exposure).
For brain fog / concentration issues, follow up on SNPs affecting ammonia (such as NOS gene, etc.) & BH4 levels (DHPR gene, etc.), also.
With anxiety as a chief ... ..more
This #gene encodes an immunoregulatory cytokine produced primarily by activated #Th2 cells. This #cytokine is involved in several stages of B-cell maturation and differentiation. It up-regulates CD23 and MHC class II expression, and promotes IgE isotype switching of B cells. This cytokine down-regulates macrophage activity, thereby inhibits the production of pro-inflammatory cytokines and chemokines. This cytokine is found to be critical to the pathogenesis of allergen-induced asthma but operates through mechanisms independent of IgE and eosinophils. This gene, #IL3 , #IL5 , #IL4 , and #CSF2 form a cytokine gene cluster on chromosome 5q, with this #gene particularly close to IL4. [provided ... ..more
HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and ... ..more
The protein encoded by this #gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010] Data provided by NCBI http:://www.ncbi.nlm.nih.gov/gene/55054 ..more
Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The #APOE #gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in #apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma #cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by ... ..more
Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). #Adducin is a heterodimeric protein that consists of related subunits, which are produced from distinct genes but share a similar structure. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing results in multiple variants encoding distinct isoforms; however, not all variants ... ..more
The protein encoded by this gene belongs to the highly conserved #cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. In contrast to cyclin A1, which is present only in germ cells, this cyclin is expressed in all tissues tested. This cyclin binds and activates CDC2 or CDK2 kinases, and thus promotes both cell cycle G1/S and G2/M transitions. [provided by RefSeq, Jul 2008] Data ... ..more
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]
Data provided by NCBI ..more
This was copied from a Facebook post made by the Founder and Lead Developer of Livewello who is also an M.D. and has a son on the #Autism Spectrum
"I'd like to share with you the reason why 23andMe Gene results sometimes differ depending on the App used. This is because of the Minor Allele used:
All of LiveWello's Minor Allele information is retrieved directly from dbSNP. A link to dbSNP is added to every SNP in a Livewello Gene Variance Report. That way, a user and their Practitioner can verify minor allele information for themselves.
At ... ..more
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