WHAT: Genetic faults in Autism include abnormalities of a pathway that uses the Methyl (CH3-) radical in carrying out a number of metabolic functions. WHERE: Methylation pathways refers to the ability to supply the partial Methyl molecule to cells that need it. It mostly involves the nerves and brain function. Its manufacture is a complex process that culminates in the manufacture of Methionine from Homocysteine, to carry the Methyl radicle into the brain for its actions.
The DNA chain is like a long tape of a tape-recorder, carrying information for the manufacture of many hundred chemicals. The methyl radical is used to mark the beginning and end of one piece of such information in the long DNA chain for one particular piece of informtion out of the many hundred that each strand carries. This marked out territory is copied by a smaller nucleic acid (RNA) to manufacture a protein or enzyme or other chemical needed at that time by that nerve cell.
The brain uses a number of chemicals to pass on its signals from one nerve or cell to another. They are called Neuro-transmitters, one of which is called Dopamine. There neurotransmittters have their own specific "plug points" to attatch to before they can do their work. One class of the Dopamine receptors must be switched on by the prior attachment of the methyl radical before dopamine can attach to it to regulate behavior.
The methyl radical is an essential food for the integrity, function and repair of the nerves
The problem of methyl availability and its remedy
Vitamin B12 is a vitamin found in animal source foods like milk, eggs, meat, fish, etc. By itself it is an incomplete vitamin. Different tissues wanr different radicals for their function like Methyl, Hydroxy, Acyl, Cyano, etc. There is a gene in our body called "MTHFR" that helps to load Methyl onto MB12 to convert it transiently into Methyl B12 or MB12. The methyl is either used up or the excess excreted in urine within 4 to 5 hours. But God created a 24 hour day. On the other hand, the 24x7 hrs working brain requires a flat low therapeutic level 24x7 to carry out proper brain function. This is not possible with oral or standard injection forms as they give a high peak and low trough levels of the vitamin in blood inbeteen doses, even if given 4 hourly 24x7. The only remedy is a specially formulated injection. Each dose , at a dose equal to less than half of a drop of water, that takes 72 hours to release all the drug into blood, enabling just what the body ordered.
METHYLATION ABNORMALITY IN AUTISM
Two genes, (the first more important) called MTHFR C677T and MTHFR A1298C manufacture an important enzyme called Methyl Tetra Hydro Folate Reductase (MTHFR) to ultimately add Methyl to B12 to convert it to Methyl B12. In its absence, the brain fails to properly transcipt (read the DNA code for) the information to manufacture many proteins and enzymes. This is an important cause of many of the symptoms of ASD. In addition, the absence of Dopamine methylation by MB12 leads to the failure of Dopamine to attach to its receptor to activate it to control unruly (often psychotic-like) behavior, seen in more severe cases of ASD. It is of interest to note that even in Schizophrenia, it is the same receptor that is inactive and causes many of the features of insanity whereas in ASD, it is merely deficiency of activation and inadequate function of the Dopamine D4 receptor.
This is just a brief write-up. Much more can be done to help children with Autism or allied disorders with metabolic or genetic or pollution aggravated NDDs.
TREATMENT MANDATES
Maintain a flat and low but THERAPEUTIC blood level of MB12 on a 24x7 basis
High peaks and troughs as obtained with tablets and commercialy marketed injection or sprays are NOT the answer. Unfortunately, due to existing laws, in the absence of any clinical trial of this orphan out of patent drug, no one will do a clinical trial to manufacture it on a commercial basis at lower cost.
It is only available at moderately high cost for a 3 month supply at a time, in USA, at a few approved Pharmacies against a valid current prescrition by a doctor recognised in USA for this purpose.
There is a particular method of administration of this drug.
Some additional additional micronutrients must be co-prescribed to add to its drug efficacy.
Specific storage and transport must be followed for the drug
This is just a brief write-up. Much more can be done to help children with Autism or allied disorders with metabolic or genetic or pollution aggravated NDDs.
TREATMENT OPTION
Contact Dr. Mukherjee. Also, SKYPE consultation available for international and outstation parents of children with autism spectrum and other NDDs, by prior appointment through E-mail and transfer of consultation charges to designated bank account as will be informed on E-mail.
