What is a CBS mutation?
This form of homocystinuria is caused by a genetic mutation in the CBS gene , which leads to low levels or absence of an enzyme called cystathionine beta-synthase (CBS). When CBS is absent or not working right, homocysteine and other toxic chemicals build up in the blood and urine.
What is CBS upregulation?
CBS: (Cystathionine Beta Synthase) This enzyme converts homocysteine to cysteine and glutathione. This is an upregulation defect; it regulates the enzymes that help to convert homocysteine into glutathione, a major antioxidant. Mutations in the CBS genes will produce more sulfur end products from the methylation cycle.
What is the methylation pathway?
The Methylation Cycle is a biochemical pathway that manages or contributes to a wide range of biochemical functions: detoxification, supporting DNA (turning genes on and off), producing energy, reducing inflammation, synthesising neurotransmitters, homocysteine metabolism, protein methylation, phase 2 liver …
Where does methylation cycle take place?
blood vessels
The methylation cycle begins in the blood vessels with folate (B9) obtained from diet. When methylenetetrahydrofolate reductase (MTHFR) acts on folate, it picks up a methyl group, transforming into methyltetrahydrofolate (MTHF). MTHF is able to methylate homocysteine to methionine.
What is CBS testing?
A complete blood count (CBC) is a blood test used to evaluate your overall health and detect a wide range of disorders, including anemia, infection and leukemia. A complete blood count test measures several components and features of your blood, including: Red blood cells, which carry oxygen.
What is homocystinuria CBS related?
What Is Homocystinuria, CBS-Related? Homocystinuria is an inherited metabolic condition where there is excessive homocysteine in the body. Classic homocystinuria is caused by cystathionine beta-synthase deficiency (CBS deficiency) due to a mutation in the CBS gene.
What is the CBS enzyme?
Cystathionine beta-synthase (CBS) is the first enzyme in the transsulfuration pathway, catalyzing the conversion of serine and homocysteine to cystathionine and water. The enzyme contains three functional domains.
Is homocysteine genetic?
It has been recognized that some people have a common genetic variant (called methylenetetrahydrofolate reductase, abbreviated MTHFR) that impairs their ability to process folate. This defective gene leads to elevated levels of homocysteine in some people who inherit MTHFR variants from both parents.
What do you need to know about the Yasko protocol?
The Yasko Protocol considers overall observations about The Methylation Pathway in addition to looking at specific SNPs, which can give a sense of some of the larger issues to consider in terms of the pathway as a whole.
How many SNPs does dr.amy Yasko look at?
Dr. Amy looks at the interaction of the 30 SNPs in this pathway; this is unlike other programs that instead only focus on one or two SNPs. In spite of one or more serious imbalances in the pathway, an individual’s unique combination of SNPs can be viewed as the body’s effort to have The Methylation Cycle function.
Is the upregulation of the CBS enzyme harmful?
Upregulation of the CBS enzyme via two genetic polymorphisms has been theorized to be possibly detrimental for some conditions, based on the work by Dr. Amy Yasko in autism.
How did dr.amy Yasko get into autism?
Dr. Amy’s journey into the field of Autism was an organic process that evolved over time. While she began in adult neurological inflammation, life took her in the direction of Autism. Dr. Amy did not plan this path but is so grateful that it found her.