PITTSBURGH (KDKA) - Alzheimer's is a devastating disease for both its victims and their families.
But, could a discovery made in California be a game-changer? Researchers at an independent lab in San Francisco are taking a different approach to attacking it.
"Of course, this is very encouraging," said Dr. Yadong Huang.
He and his team are looking at a gene that puts you more at risk for Alzheimer's. It's called ApoE4.
"Anyone who carries one copy can increase three- to four-fold the risk to develop Alzheimer's disease," said Dr. Huang.
If you inherit two copies of the gene, your risk of developing of it jumps to 15-fold.
While not everyone with the gene ends up getting the disease, six out of 10 Alzheimer's patients have it.
Dr. Michael Weiner is a well-known Alzheimer's expert at the University of California San Francisco.
"ApoE4 produces toxic proteins which affect the nerve and cause it to do bad things," said Dr. Weiner.
But, what if there were a way to get rid of ApoE4?
"Your risk would drop substantially," Dr. Weiner said.
That's exactly what the team at Gladstone has been able to do.
Not in test mice, which sometimes produces results that can't be repeated in people, but in human cells given to them by Alzheimer's patients in tiny samples of skin.
They found a way to change those skin cells to special stem cells, which can be used to create any type of cell.
They turned them into human brain cells, so they were able to study how ApoE4 damages the brain. It turns out, it makes a protein that's deformed.
Their next step may be the most exciting. They tested a drug on the protein, and it actually corrected its deformed structure, erasing the toxic effects.
"The structure corrector rescued the human brain cells from this Alzheimer's disease related pathology," said Dr. Huang.
The damaged neurons turned healthy again.
Dr. Weiner cautions that the results need to be replicated by other labs and that the drug needs to be tested in humans, which will take years and a lot money. That said, he believes, "It's a very interesting discovery."
Nearly 6 million Americans have Alzheimer's and one of them was KDKA-TV reporter David Highfield's mother, Judy.
A former first grade teacher in Armstrong County, Judy loved crossword puzzles, drawing, music and most of all, she loved her husband, Larry, and her son.
Larry said he first noticed something was wrong at church when it was their turn take the collection plates around.
"She couldn't remember what I told her, and I told her again," said Larry. "I realized she couldn't remember stuff."
He says when they'd go out to dinner, she began just copying his order, and things escalated. She would ask, 'Where are we going?' And she would ask it again and again.
When the family learned it was in fact Alzheimer's, she faced it bravely, and just as bravely, Larry made it his mission to care for her, which became an exhausting, non-stop job.
Judy would often sleep during the day and be up at night. She lost interest in reading or watching TV.
But, music remained the thing that made her smile. The family would spend hours playing the tunes she still remembered on their old piano. Music always put a sparkle in her eyes.
Over the years, it was clear the disease was progressing. As is common, she could still remember events from long ago, but not what happened five minutes ago.
She knew she was married to Larry, but a few times, she didn't seem to recognize him.
She would ask, "Where's Larry?" David would point at him, and she would still ask, "Where's Larry?"
Family, neighbors and some wonderful caretakers allowed Larry to leave long enough to run errands. He says he couldn't have gotten through it all without the family's support, and the support of his church family.
"I'm so proud of how my dad cared for her in a loving and patient way," David said.
While they gave her medicine for Alzheimer's, it was hard to tell if it did anything to slow the disease.
"We thought maybe the pills would make a miracle, and things would go away," said Larry.
But, they never did.
The family doesn't know if Judy even had the ApoE4 gene, but in any case, the latest research didn't come soon enough.
In her final weeks, Judy had trouble swallowing food.
She struggled to remember the songs she used to love, and eventually didn't even want to hear music at all.
There came a point when she could no longer walk on her own. She was unable to talk, but still communicated by snapping and winking.
She passed away nearly 10 years after her battle began.
"I hope they find a cure for this," Larry said.
And he says he's grateful for the moments of clarity she had. One happened just a few months before she passed away.
"You know what I remember more than anything lately?" he asked. "You know when I said good night, and we were ready to go to sleep, she said, 'I love you. I love you. I love you.' And I got to thinking maybe she isn't completely gone."
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