Page 12 - Abacoa Community News - August '21

Page 12, Abacoa
scieNce ON tHe cUttiNg edge

The Scripps Research Institute News

Changes In Metabolism May
Produce Neurofibromatosis

Traits, Study Finds

Research in fruit flies reveals how nerve cell
changes disrupt normal metabolic rate.
Neurofibromatosis type 1, a disease that features
nerve tumors, an elevated risk of autism, and many other
symptoms, has long been tied to mutations in a gene called
NF1. Scientists at Scripps Research have discovered Neurons (green) in the ventral nerve cord of the fruit fly
important clues about how that gene disruption may lead regulate metabolism in NF1 neurofibromatosis fly models.
to disease. Graduate student Valentina Botero is first author on a study Photo by Tomchik lab
The scientists’ findings appeared July 13 in the journal of how NF1 mutations disrupt metabolism in fruit flies.
Nature Communications. The team led by Seth Tomchik, A key discovery was that this and other metabolic
Ph.D., an associate professor of neuroscience at Scripps in 2020, can shrink or prevent the growth of a type of alterations in the mutant flies are due mainly to the
Research, found that in a standard model organism, the benign nerve tumor, but it is applicable only to a subset disruption of fly neurofibromin function in a small set
Drosophila melanogaster fruit fly, mutating the fly version of children with the disease, and is not a cure. of neurons in the fly central nervous system. This means
of NF1 alters the function of a specific population of In recent years, studies of neurofibromatosis type 1 that the nervous system is the root cause of the metabolic
nerve cells. This in turn leads to widespread metabolic in people and in animal models have begun turning up changes and pinpoints the precise location, Tomchik says.
disruptions, including a markedly higher metabolic rate – evidence that the disorder also involves abnormalities The metabolic pathways regulated by these neurons in
essentially a faster consumption of energy – in these insects. in metabolism. People who have the disorder are shorter fruit flies are likely regulated by different sets of neurons
The findings dovetail with prior hints of metabolic than average and appear to have a relatively low risk of in humans, but the basic pathways themselves are found
abnormalities in neurofibromatosis type 1 patients and getting type 2 diabetes. Similarly, mice with mutations in virtually all animals, Tomchik notes.
suggest the possibility that these abnormalities are key in the mouse NF1 gene, compared to normal mice, are “This study certainly has given us an idea of the
features and drivers of the neurofibromatosis disease process. leaner, and are more resistant to obesity and have high populations of neurons in people that we should look
“Our findings suggest that we should look at the blood sugar levels when given high-calorie diets. at in future studies for their potential role in mediating
neuronal regulation of metabolism in people to better In the new study, Tomchik and his colleagues, metabolic effects of neurofibromatosis type 1,” he says.
understand this disease, and potentially find more including first author Valentina Botero, a graduate student Although the metabolic alterations identified in the
effective ways to treat it,” Tomchik says. in the Tomchik laboratory, investigated the mechanisms study represent a distinct, and so far, little-studied, facet
Neurofibromatosis type 1 arises when just a single of neurofibromatosis type 1’s metabolic impact with of the disease, he adds, they may also contribute to some
copy of NF1, of the two normally found in cells, is detailed experiments on Drosophila fruit flies – which, of the better known signs and symptoms.
mutated and inactivated. The disorder occurs in one out of despite their evolutionary distance from humans, model He and his team now plan to do more detailed studies
every 3,500 or so live births, and currently about 100,000 many aspects of the human disease. of the metabolic pathways affected by NF1 mutations,
people in the United States are living with it. Benign The scientists showed, using advanced genetic in animal models and in human cells, to see how the
tumors that grow from nerves anywhere in the body are engineering techniques, that when the flies have disruptions of those pathways may lead to different
one of the classic features of neurofibromatosis type 1, mutations in their version of NF1, so that levels of fly manifestations of the disease.
but the disorder can include epilepsy, learning disabilities, neurofibromin protein are greatly reduced, their metabolic “We’re definitely interested in the possibility of
vision problems, and skin lesions, along with a higher risk rate is significantly higher, so that they feed more and targeting specific metabolic pathways as a way to treat
of autism spectrum disorder, cancers, and heart disease. burn energy faster, compared to normal flies. this disorder,” Tomchik says.
The protein encoded by the NF1 gene, neurofibromin,
normally works, among other things, to regulate the
activity of a multifunctional, growth-related protein called A Garden from page 9 South America, it has traveled throughout the world.
Ras. Its disruption leads to more Ras activity. Ras is also It is called pitaya in Hindi! Dragonfruit is high in
hyperactive in many cancers. However, scientists don’t Fennel, Parsley, antioxidants, low in calories, has no cholesterol and
know much more than that about the disease process. Dill – These herbs are helps optimize overall functioning.
The only specific treatment, a drug called selumetinib delicious for humans The 2021/22 garden season begins Aug. 1.
that was approved by the Food and Drug Administration and also attract the Membership is $40 per household. There is a waiting
black swallowtail Zebra butterfly list for individual beds ($30/half; $60/whole). Please
butterflies. They lay
write on your form if you want to get on the waiting list.
Your ad their eggs under and Forms are in the garden mailbox at 1022 Community
atop the leaves.
Drive or can be downloaded at www.abacoa.com under
could be here! swallowtail butterflies and has the most horrid thorns, so clubs/groups. Come visit, especially Saturday morning.
Prickly Ash/Wild Lime – This plant attracts the giant
We are all volunteers and welcome everyone!
beware! It is grown outside the garden along the fence.
Firebush – These bushes grow large and are on the
Call outside of the garden along the fence. Their bright red

561-746-3244 flowers attract the zebra longhand and gulf fritillary
butterflies. We also have mockingbirds that hang out
and converse. They also had a nest too!
Coontie – This is a special Florida native plant. We
now have many of them in the Tom’s “Florida native
garden bed.” They attract the rare Atala butterflies.
I also want to share with you the exciting flowering
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