This topic category was initiated by a request to help some Mitosynergy customers with a daughter with a rare mutation in the CLCN7 gene. The CLCN7 gene codes for a H+/2Cl antiporter that, together with the H+ pump, plays a role in bone digestion and remodeling. It also plays a role in pH regulation of intracellular digestive organelles called lysosomes.

  • CLCN7 osteopetrosis mutations are commonly associated with bone hardening. There are extra-skeletal manifestations of these mutations.
  • CLCN7 structure is a discussion of where disease causing mutations in the CLN7 structure in relation to the structure of the translated protein.
  • CIC7 is found in the choroid plexis, the membrane that regulates what from the blood gets into the cerebral spinal fluid.
  • PRSEN1 and mitophagy describes how this Alzheimer’s Disease protein that tags dysfunctional mitochondria impairs lysosome degradation via mitophagy.
  • Propionic acid and mitophagy looks at a short chain fatty acid associated with ASD. Mitochondria are enriched in dendritic spines. Their removal by autophagy is important to brain health.
  • Quercetin and hydrochloroquine describes two common drugs used to modulate lysosome conditions. Hydrochloroquine prevents lysosome acidification. Quercetin, an anti-oxidant, alleviates Cadmium-induced autophagy inhibition via transcription factor. TFEB-dependent lysosomal restoration.
  • Plasmologen describes some very long chain phospholipids from seafood that may modulate autophagy.
  • TREK1 is an ion channel that contributes to passive transmembrane potassium transport. It gets categorized with lysosomes due to its interaction with CIC5 and sortillin.
  • Ivermectin explores several targets of Ivermectin as well as a possible mitophagy inducing agent via targeting adenosine receptorP2x7
  • Suramin is used to treat trypanosomiasis as well as a non-specific P2Y antagonist. It is being explored as a treatment of ASD.
  • Lysosome and chloride explores a very ground breaking hypothesis that it is chloride anions that modulate lysosome hydrolases.
  • PIKfyve regulation explores regulation of this PIP kinase important in lysosome function by AMP kinase phosphorylation.