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Glenn Nichols, surrounded by his hospice team. The author is in yellow.

Genetic Linkage

Juvenile Huntington's Disease: The Cruel Mutation

June 3, 2013

Tags: Huntington's disease, rare disease, Woody Guthrie, CHDI, HDSA, genetics, triplet repeat mutation

Jane and Karli Mervar
Looking back, signs that Jane Mervar’s husband, Karl, had Huntington’s Disease (HD) started about when their youngest daughter, Karli, began to have trouble paying attention in school. Karl had become abusive, paranoid, and unemployable due to his drunken appearance. The little girl, born in September 1996, was hyperactive and had difficulty following directions. When by age 5 Karli’s left side occasionally stiffened and her movements slowed, Jane began the diagnostic journey that would end with Karli’s diagnosis of HD, which had affected the little girl’s paternal grandmother.

Soon Karli could no longer skip, hop, or jump. And new troubles emerged. (more…)

Fruit Flies Bring Good News to Huntington's Disease Families

June 2, 2011

Tags: Huntington's disease, animal research, PETA, People for the Ethical Treatment of Animals, fruit flies, Drosophila, KMO, animal models, American Physiological Society, Huntington's Disease Society of America, HDSA, Cure Huntington's Disease Initiative, CHDI

I’m a big supporter of animal research, but I usually keep such studies out of my textbooks, because too many times what’s true for a mouse turns out not to be true for a person. But the news from Flav Giorgini and colleagues at the University of Leicester, University of Maryland School of Medicine, and Gladstone Institutes in San Francisco is hard to ignore – and it isn’t even in mice, but my old pals fruit flies.

The science is straightforward: blocking production of an enzyme called KMO, either by knocking out its gene or feeding flies drug-laced goop, enables flies with a version of Huntington’s disease to move more normally. HD is the neurodegenerative disease that struck Woody Guthrie, causing uncontrollable, dancelike movements. Dr. Giorgini discovered the connection to KMO in yeast in 2005, using resistance against cell death as a sign, since yeast are not known to dance. And the next step is obvious – try KMO inhibitors in people. The enzyme is also implicated in Alzheimer’s disease, ALS, AIDS dementia, and a host of other common conditions.

This fly/KMO study is a perfect example of the value of animal research. And so I went onto the People for the Ethical Treatment of Animals website to see what they had to say about the value of fruit fly research. Flies are, after all, animals. I found only an outdated blog comment about a PETA-provided bug catcher, which one would presumably use to escort errant cockroaches outside. The main page featured, as usual, the adorable – dogs, monkeys, and lions – and if you search a bit, the occasional mistreated turkey or lobster. The Bambi factor is at work - protect the furry.

I'm relieved. As a former Drosophila geneticist and author of fly porn, I personally murdered millions of the little beasts, heartlessly drowning them in vats of mineral oil, or exploding their innards when I drank too much coffee before injecting them. Since then, I've lived in fear of attack by Alicia Silverstone. I guess I can keep my American Physiological Society “I’m Alive! Thanks to Animal Research!” tee shirt.

instruction
Project to engage students in helping families with rare genetic diseases
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
Instructor's Guide
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
Narrative science
The Forever Fix is the uplifting true story of 8-year-old Corey Haas, who was cured of hereditary blindness just 4 days after gene therapy.
College Textbooks
A spectacularly-illustrated, clearly written human anatomy and physiology textbook, used in pre-health profession programs throughout the U.S.
A highly engaging, clearly written, beautifully illustrated introduction to the science of human genetics for the non-scientist. Now in its 10th edition.
Nonfiction
An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.

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