Stories about: brain research

Patients’ brain tissue unlocks the cellular hideout of Sturge-Weber’s gene mutation

A diagram of the skull and brain showing the leptomeninges, which is affected by Sturge-Weber syndrome
Sturge-Weber syndrome causes capillary malformations in the brain. They occur in the brain’s leptomeninges, which comprise the arachnoid mater and pia mater.

A person born with a port-wine birthmark on his or her face and eyelid(s) has an 8 to 15 percent chance of being diagnosed with Sturge-Weber syndrome. The rare disorder causes malformations in certain regions of the body’s capillaries (small blood vessels). Port-wine birthmarks appear on areas of the face affected by these capillary malformations.

Aside from the visible symptoms of Sturge-Weber, there are also some more subtle and worrisome ones. Sturge-Weber syndrome can be detected by magnetic resonance imaging (MRI). Such images can reveal a telltale series of malformed capillaries in regions of the brain. Brain capillary malformations can have potentially devastating neurological consequences, including epileptic seizures.

Frustratingly, since doctors first described Sturge-Weber syndrome over 100 years ago, the relationship between brain capillary malformations and seizures has remained somewhat unexplained. In 2013, a Johns Hopkins University team found a GNAQ R183Q gene mutation in about 90 percent of sampled Sturge-Weber patients. However, the mutation’s effect on particular cells and its relationship to seizures still remained unknown.

But recently, some new light has been shed on the mystery. At Boston Children’s Hospital, Sturge-Weber patients donated their brain tissue to research after it was removed during a drastic surgery to treat severe epilepsy. An analysis of their tissue, funded by Boston Children’s Translational Neuroscience Center (TNC), has revealed the cellular location of the Sturge-Weber mutation. The discovery brings new hope of finding ways to improve the lives of those with the disorder.

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Science Seen: Brain myelination in tuberous sclerosis complex

tuberous sclerosis brain myelination improved with CTGF deletion

Tuberous sclerosis complex (TSC) strikes about 1 in 6,000 people and is marked by numerous benign tumors in the brain, kidneys, heart, lungs and other tissues. Children with TSC often have epilepsy, intellectual disability and/or autism, showing disorganized white matter in their brains. Work in the lab of Mustafa Sahin, MD, PhD, has shown that the TSC1 mutation disrupts the brain’s ability to adequately wrap its nerve fibers in myelin, the insulating coating that enhances nerves’ ability to conduct signals. A new study from the lab shows why: neurons lacking functional TSC1 secrete increased amounts of connective tissue growth factor (CTGF). This impairs the development of oligodendrocytes, the cells that do the myelinating. Here, electron microscopy in a TSC mouse model shows a decreased number of nerve fibers wrapped in myelin (dark ovals) on the left. On the right, genetic deletion of CTGF increases myelination. Sahin plans to delve further to develop potential pharmaceutical approaches to restore myelination in TSC. Read more in the Journal of Experimental Medicine. (Image: Ebru Ercan et al.)

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Your brain on neglect: The evidence

D Sharon Pruitt/Flickr

If there wasn’t enough reason to be concerned about children suffering psychological and physical neglect—by their family, in foster homes, or from war or weather catastrophes—we now have three good lines of evidence that neglect harms a child’s developing brain.

But there’s also hope that some of this harm can be undone if caught in time.

Impaired IQ

The first evidence comes from cognitive studies done in Romania, where the Bucharest Early Intervention Project (BEIP) has transferred some children reared in its infamous orphanages, selected at random, into quality foster care homes. In 2007, Charles Nelson, PhD, and colleagues documented cognitive impairment in institutionalized children, but also showed improvement when children were placed in good foster homes, especially when they were placed before age 2.

Further evidence—brain imaging—comes from a more recent study by Nelson’s colleague Margaret Sheridan, PhD.

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A match made in heaven: The Children’s/MIT Research Enterprise

Crossing the river has had benefits that go back decades (Roger Wollstadt/Flickr, 1975)

It’s inspiring to see what happens when a hospital dedicated to providing the best treatments for children partners with a world-class technology and engineering institution.  Children’s Hospital Boston and MIT have embarked upon an exciting program of collaboration and cross-fertilization in research, teaching and mentoring. The goal is to connect outstanding disease-oriented research with cutting-edge innovation and technologies, taking our ability to care for children to a new level while training the next generation of clinicians and scientists.

The historical ties between Children’s and MIT run deep. Individual scientists and clinicians have teamed up to design new medical devices; to identify gene mutations that underlie cancer and disorders of development; to create new approaches to drug delivery using slow-release polymers to extend medication efficacy;

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