People with Alzheimer’s gene start to show signs from the age of 40 and by the time they hit 60, their thinking ability and memory completely deteriorates. However, recently a woman with an active Alzheimer’s gene did not show any sign of the disease till her 70s. Her case is very unique and after doing a lot of studying and research on this unique case, it was deduced that she did not develop Alzheimer’s despite having the gene because she had two sets of APOE3 variants.
This woman had a family history of Alzheimer’s and all her family members, including her, carried the PSEN1 E280A gene mutation, which is the cause of early-onset Alzheimer’s. However, unlike her family members, she had two copies of APOE3 gene variant, which seems to be the possible reason why she didn’t develop dementia until the 70s and all her family members started to show Alzheimer’ sign in their 40s. Another research on this case shows that the woman had a large amount of amyloid protein deposits in her brain, it is a trademark of Alzheimer’s disease. But she had very less amount of tau tangles in her brain, a trademark of Alzheimer’s that has more associated with memory and thinking ability.
Scientists did another experiment related to this unique case and found out that the binding of APOE and HSPG, Heparan Sulphate Proteoglycans, can damage the brain as these can increase the amounts of amyloid and tau tangle deposits. The APOE3 variant may decrease this binding, therefore, a drug can be developed with APOE3 to reduce the binding of APOE and HSPG and this could serve as the treatment for Alzheimer’s disease.
Sometimes focusing on these unusual cases can lead to tremendous findings that help prevent diseases like Alzheimer’s that reduce the memory and thinking the ability of the brain. The further findings of this case can have a dramatic effect on the current and potential patients of Alzheimer’s disease. This woman’s family has struggled with dementia for centuries causing early deaths, memory loss, etc. She has outlived them all without any signs of early-onset Alzheimer’s. Scientists are still doing experiments to come up with a treatment or any medicine that can prevent or delay Alzheimer’s in people who carry the gene mutation. This procedure may take a while but overall it is great news for people who have Alzheimer’s run in their family for years.