tag:blogger.com,1999:blog-655962722302095847.post7065767664141923424..comments2024-03-28T22:33:35.806+01:00Comments on Epiphany: Regressive Autism and Mitochondria - Part 1Peter Lloyd-Thomashttp://www.blogger.com/profile/10173383229834614994noreply@blogger.comBlogger16125tag:blogger.com,1999:blog-655962722302095847.post-7155965497015627642016-09-05T22:41:33.656+02:002016-09-05T22:41:33.656+02:00Oops, think I forgot the link, if not delete this ...Oops, think I forgot the link, if not delete this comment: http://www.ncbi.nlm.nih.gov/pubmed/20414966Anonymousnoreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-13045989659356406512016-09-05T22:41:08.841+02:002016-09-05T22:41:08.841+02:00I came across this interesting titbit from a group...I came across this interesting titbit from a group looking at a cellular model of Parkinson's & the effect of Alpha Lipoic Acid & Acetyl L Carnitine:<br /><br />"when combined, LA and ALC worked at 100-1000-fold lower concentrations than they did individually"<br /><br />The cocktail above contains both but maybe sometimes we need more than one to get the best effect.. Anonymousnoreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-49258265976294092702015-11-02T12:24:12.713+01:002015-11-02T12:24:12.713+01:00Petroula, if you read the link below you will see ...Petroula, if you read the link below you will see all about G6PD deficiency. It is very common and since it so directly affects oxidative stress it will affect mitochondria to some degree.<br /><br /><br />https://web.stanford.edu/group/mochly-rosen/Research.html<br /><br />G6PD<br /><br />Glucose-6-phosphate dehydrogenase (G6PD) is a key enzyme in the pentose phosphate pathway that generates NADPH and reduced glutathione (GSH). G6PD is essential in maintaining the redox equilibrium to handle oxidative stress, especially in erythrocytes.<br /><br />Over 400 million people worldwide have G6PD deficiency resulting from point mutations in G6PD. There are over 160 known point mutations, which give symptoms ranging from chronic non-spherocytic hemolytic anemia (Class I) to almost no clinical manifestation (Class IV). Some mutations reduce catalytic activity, while other mutations reduce the stability of the enzyme without affecting the catalytic activity.G6PD functions as a dimer and a tetramer. In addition to the catalytic NADP+, G6PD also binds a second NADP+ far from the active site. Once the G6P substrate is bound, this structural NADP+ may migrate to the catalytic site. The structural NADP+ is essential for enzyme function, and many Class I mutations are found near the structural NADP+ site.<br /><br />Our lab aims to find small molecules that correct G6PD mutations by increasing the catalytic activity and/or stability of the mutant enzyme. This project involves characterizing the stability and activity of mutant G6PD in vitro, in cell culture, and in vivo models. We plan on conducting a high-throughput screen to identify molecules that can correct G6PD mutations.<br />Peter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-13752168287092328002015-11-02T12:02:39.185+01:002015-11-02T12:02:39.185+01:00Peter do you know if there is a connection between...Peter do you know if there is a connection between deficiency in enzyme G6PD and mitochondrial disease? My hypothesis may be irrelevant but I thought I should know.<br />PetroulaAnonymousnoreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-75514450592957953312015-09-28T14:00:55.948+02:002015-09-28T14:00:55.948+02:00I feel like we are starting to make progress now, ...I feel like we are starting to make progress now, albeit in a roundabout way, with lots of trial and error, and of course reading your blog. At least I have a better idea of what to avoid.<br /><br />It is always a challenge to hear that what your child needs is likely the opposite to what many other people need. But that is the nature of autism, I guess.<br /><br />The next test will be to give him a dose of paracetamol and see if he has a good day, but I think I already know what the answer to that will be.<br />NinaAnonymousnoreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-62385184185611557192015-09-27T21:17:52.996+02:002015-09-27T21:17:52.996+02:00Studies show that the great majority of "auti...Studies show that the great majority of "autism" are associated with oxidative stress. But several people have told me that NAC made things worse and a few of those said the broccoli made things worse. Those cases almost certainly had no oxidative stress, perhaps they were just "right", but likely they were in reductive stress. Reductive stress is a known condition, just not written about much. <br /><br />If you had reductive stress you would want to do the opposite of what I am doing with my son. So reduce GSH and do not active the antioxidant genes via Nrf2.<br /><br />In the lab tests, they would measure GSH and GSSG.<br /><br />In my son there is too little GSH and too much GSSG.<br /><br />In reductive stress there would be too much GSH and too little GSSG.<br /><br />Or it could be that the Glutathione peroxidases (GPx), whose job is too protect from oxidative damage, are just over activated.<br /><br />One reader whose non-verbal child responded negatively to NAC and broccoli, had responded very positively years previously to three doses of MMS, by which I assume she means bleach. Sodium chlorite (NaClO2) is a potent oxidant, but clearly a harmful substance. <br /><br />I suggested to her that he son might have the opposite of oxidative stress. <br /><br />Autism is actually full of opposites, big heads and small heads, high cholesterol and low cholesterol, high growth factors and low growth factors.<br /><br />The safe known OTC oxidant that lowers GSH is paracetamol/acetaminophen. If this improves behavior then it really looks like reductive stress.Peter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-48501927542659744282015-09-27T13:31:16.392+02:002015-09-27T13:31:16.392+02:00It does get very complicated. I tried fluimucil an...It does get very complicated. I tried fluimucil and pharmaNAC. Initially I thought I saw a slight improvement after a dose of fluimucil in terms of more initiative but that only lasted one day. I continued with fluimucil hoping to see benefits and then I switched to pharmaNAC 900mg and I never made it anywhere near the doses used in the Stanford trial. At the time we were struggling with terrible anxiety and panic attacks. In fact his anxiety was bordering on out of control. I was living in a constant state of nervous tension. I ditched the NAC and changed to propranolol and experienced instant relief. <br /><br />It never crossed my mind until now that the NAC could have been making him worse.<br />NinaAnonymousnoreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-3910164321793408092015-09-26T17:19:10.699+02:002015-09-26T17:19:10.699+02:00Did you try NAC and did it have a negative impact?...Did you try NAC and did it have a negative impact? It seems that some people have reductive stress, which is the opposite of oxidative stress. It is just an imbalance in the opposite direction. Reductive stress is associated with mitochondrial dysfunction and increased reactive oxygen species (ROS) production. It does get complicated and somewhat counter intuitive.<br /><br />In theory if you has reductive stress, an oxidant should make you feel better. So if NAC makes you feel worse, paracetamol should make you feel better.Peter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-89613210203474720502015-09-26T15:10:58.201+02:002015-09-26T15:10:58.201+02:00I have read this post a number of times with great...I have read this post a number of times with great interest and decided to do a trial of L Carnitine. I was fascinated to see that on the days my 8 yo has L Carnitine he is behaviourally excellent. He has shown hugely improved attention, focus and even started using adjectives in his speech. <br /><br />This intrigues me because while I have always described my son as having classic autism perhaps I am wrong and I have been using the incorrect description. 4 years ago he was diagnosed as having PDD NOS. Under the old DSM he was given this diagnoses because he didn't exhibit rigid or repetitive behaviours but he did have the social and communication delay. However, after reading the above post I remember very clearly an incident that happened during pregnancy which would have been the first 'hit'. Before the age of 12 months I remember him pointing to the ceiling and saying 'light'. Then around the age of 12 months I remember him becoming sick with a virus, just a run-of-the-mill virus, nothing special, but I remember that afterwards he changed his eating habits and stopped eating a wide variety of foods, eye contact gradually diminished, language grew very slowly. He never obviously regressed (because he was still so young at the time) but his development did plateau. At the time I thought it was just his personality.<br /><br />His positive response to L Carnitine has made me rethink a lot. Perhaps he does have some underlying mitochondrial dysfunction and I should try more of the mito antioxidants.<br /><br />I tried broccoli sprouts a number of times and each time they had a negative effect and caused further irritability.<br />Nina<br /><br />Anonymousnoreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-36689447027668422272015-06-29T21:20:15.793+02:002015-06-29T21:20:15.793+02:00You could discuss with the neurologist very gradua...You could discuss with the neurologist very gradually stopping valproate and start bumetanide. Clearly valproate is not good for your son in the long term.Peter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-22647760967100795962015-06-29T20:31:05.311+02:002015-06-29T20:31:05.311+02:00Peter, the hematologist told me that the great los...Peter, the hematologist told me that the great loss of lymphocytes is due to an intoxicaton with valproate, and it must be suspendend. Imagine that when i got the lab results, terrible things crossed may mind, in a way, this was expected. Thinking about my son's kind of autism and his electrical activity, what would you use to replace it, what options would be? I think that an antiepileptic drug is too much, but i dont know. I apreciate your help, and sorry for my english. valentinaAnonymousnoreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-26359743385020337082015-06-26T11:36:38.988+02:002015-06-26T11:36:38.988+02:00Valentina, you can do laboratory tests for mitocho...Valentina, you can do laboratory tests for mitochondrial disease. So if you are worried about it, do the tests. It is an accepted medical condition.<br /><br />https://www.tacanow.org/family-resources/autism-and-mitochondrial-function/Peter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-61372883420664534882015-06-26T05:09:57.843+02:002015-06-26T05:09:57.843+02:00Hi Peter, iam impressed with this post regressive ...Hi Peter, iam impressed with this post regressive autism and mitochondria, is all about my son, i remembered his autistic syintoms installed from one day to the other, like a nightmare, i remeberd he sang and danced before that. A News Medical article says that mitochondrial dysfunction was evaluated in lymphocytes form 10 children with autism, findings include mitochondrial dependant oxygen consumption being impaired in lymphocytes and increased cellular oxidative stress. I want to know your opinion of all that, if this is my son¨s case, he was treated with the opposite, valproat ande rispedal are the main toxins! may be is too late.valentinaAnonymousnoreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-16396177798377389322015-05-23T20:52:32.460+02:002015-05-23T20:52:32.460+02:00Georgia, here below is a very good paper all about...Georgia, here below is a very good paper all about tic disorders<br /><br />The Management of Tics<br />http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701289/<br /><br />It looks like Clonidine is effective in 50% of cases, This drug is also used to treat autism. You need to find out what dysfunction causes the tics, this may be a case of trial and error. Then you can choose the safest drug that is effective, it probably is not Risperidone. I do not know about its use with mitochondrial dysfunctions, but it doe seem to be a drug with many problems.<br /><br />In autism, stimming is usually caused by oxidative stress. The tic could also be made worse by oxidative stress. I would try NAC and see if it helps.<br /><br />Read that paper, it gives details on all the drugs used and their dosage.Peter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-63699551139079791942015-05-23T10:24:39.883+02:002015-05-23T10:24:39.883+02:00Hi again! My son who has Asperger's and Touret...Hi again! My son who has Asperger's and Tourettes is on Risperdal. Is it plausible that Risperidone can harm a child who may have mitochondrial deficiency? Whenever i tried to even reduce it the tics come back with more severity! Any other options?Thttps://www.blogger.com/profile/13779631280600363490noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-40202398658477660282015-05-23T04:04:34.170+02:002015-05-23T04:04:34.170+02:00Interesting write-up, I didn't know that mitoc...Interesting write-up, I didn't know that mitochondrial deficiency could have a role in autism. I guess that is why mitochondrial disease testing is becoming more popular. I think it is great we have more science based tests like this now to test for abnormalities.<br /> <a href="http://www.courtagen.com/test-menu-genetic-test-mtseek.htm" rel="nofollow">http://www.courtagen.com/test-menu-genetic-test-mtseek.htm</a>Anonymoushttps://www.blogger.com/profile/14477919818733986186noreply@blogger.com