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Alzheimer's and Parkinson's Disease Gene Discovered - PLA2G6 Leads to Neuroaxonal Dystrophies Iron Build-up in Brain

June 19th 2006

Alzheimer's and Parkinson's Disease Gene Discovered - PLA2G6 Leads to Neuroaxonal Dystrophies Iron Build-up in Brain

Susan Hayflick

Oregon scientists believe they have found the gene that can trigger several genetic disorders called neuroaxonal dystrophies, which can lead to Parkinson’s and Alzheimer’s diseases.  The disorder is a rare progressive childhood conditions that causes an abnormal buildup of iron in the brain.

According to Susan J. Hayflick MD, “If you're a family with a kid with one of these diseases, the impact is clear, specific and personal."  Susan is a professor of molecular and medical genetics, pediatrics and neurology in the OHSU School of Medicine.

There are some very serious disorders caused by the build-up of iron in the basal ganglia, a cluster of gray-matter tissue structures deep in the brain that control motor function.  The iron accumulates, causing swelling of the branch-like axons that transmit electrical impulses from the nerve cell body to its terminal.  This interrupts the signal sent to other nerve cells nearby.


This iron build-up can lead to some serious conditions including INAD (also known as Seitelberger disease) and NBIA (also known as Hallervorden-Spatz syndrome).  With NIAD the symptoms start by age two and worsen over time.  Children may lose head control and the ability to sit, crawl or walk, as well as deteriorating vision and speech.  The disease usually kills the victim between the ages of 5 and 10. 

NBIA manifests itself in between the teen years and adulthood and involves involuntary muscle contractions, rigidity and spasms in the limbs, face and torso, as well as confusion, disorientation, seizures, stupor and dementia.  The rapid determination is punctuated by stable periods lasting one to two months, with a rate of progression correlating with the patient's age. 

The gene PLA2G6 is thought to encode an enzyme that breaks down lipids involved in the reconstruction of a cell's membrane following damage by light and other toxins.  But when mutated, the gene can trigger the iron buildup.


According to Susan, the direct outcome of this work will help families determine their chances of passing the disorders to their children.  She added, "There are families who literally are waiting to have this test. They've been waiting for years. To have the option of bringing a child into this world you know won't have to suffer like this is extraordinary for a parent who's been through this. Some of them have had multiple children with the disease."

Both Susan and Shawn Westaway, Ph.D, co-author of study, worked with the University Of Birmingham School Of Medicine (UK), collecting DNA samples from 30 to 40 families affected by the diseases and narrowed the search for the suspect gene to a 100-gene block of DNA on chromosome 22.  This is the second smallest chromosome in humans that contains only 500 to 800 genes.

They continued to narrow their search.  The team looked for genes in the region whose function was suggestive of the symptoms and parts of the body affected by the diseases.  Again the search narrowed to just 75 genes. Finally they found “mutations in PLA2G6 in a large kindred with multiple generations of affected individuals, and in three other smaller families”, according to Westaway.   The research has led to the identification of 44 different changes in the gene which will lead to disease. 


The chromosomes containing the mutations are then compared to almost 200 control chromosomes not affected by the disease. "The severity of the mutation is usually a very good clue that the gene has been found," she said. "That evidence is confirmed by continuing to find different, but severe, mutations in the same gene in new patients diagnosed with INAD, which we have done."

"You just start sequencing genes and compare healthy people to people with the disease," Hayflick said. "In people with the disease, you see changes that are clearly disease causing."

Their research was published online June 18, in the journal Nature Genetics. 

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