Tag: Nervous System

Image of zebrafish

Genetic body/brain connection identified in genomic region linked to autism

October 6, 2017

For the first time, Whitehead Institute scientists have documented a direct link between deletions in two genes—fam57ba and doc2a—in zebrafish and certain brain and body traits, such as seizures, hyperactivity, large head size, and increased fat content. Both genes reside in the 16p11.2 region of the genome, which has been linked to multiple brain and body disorders in humans, including autism spectrum disorder, developmental delays, seizures, and obesity.

Still images of a microglia-like cell branching

Derived neural immune cells enable new facet of neurodegeneration research

September 26, 2016

Whitehead Institute scientists have devised a protocol for pushing human pluripotent stem cells to become microglia—the specialized immune cells that maintain the brain and care for it after injury. Microglia play an important role in neurodegenerative diseases, including Parkinson’s and Alzheimer’s, and studying these cells has been very difficult until now.

Cartoon of how a mutation in the genome's three-dimensional structure can activate previously silent oncogenes

Identifying a genetic mutation behind sporadic Parkinson’s disease

April 20, 2016

Using a novel method, Whitehead Institute researchers have determined how mutations that are not located within genes are identified through genome-wide association studies (GWAS) and can contribute to sporadic Parkinson’s disease, the most common form of the condition. The approach could be used to analyze GWAS results for other sporadic diseases with genetic causes, such as multiple sclerosis, diabetes, and cancer.

Photo of chimera mouse with dark hairs

New mouse-human modeling system enables study of disease development in vivo

January 25, 2016

Whitehead Institute researchers have created a new mouse-human modeling system that could be used to study neural crest development as well as the modeling of a variety of neural crest related diseases, including such cancers as melanoma and neurofibromatosis. 

Diagram of antiparallel beta-sheet structure of the enzyme catalase

Enhanced-sensitivity NMR could reveal clues on how proteins fold

October 8, 2015

Until now, it has been difficult to fully characterize the different structures that proteins can take on in their natural environments. However, using a new technique known as sensitivity-enhanced nuclear magnetic resonance (NMR), Whitehead Institute and MIT researchers have shown that they can analyze the structure that a yeast protein forms as it interacts with other proteins in a cell.

Schematic depicting creation of stable induced neural stem cells (iNSCs)

Direct generation of neural stem cells could enable transplantation therapy

November 6, 2014

Induced neural stem cells (iNSCs) hold promise for therapeutic transplantation, but their potential in this capacity has been limited by failed efforts to maintain such cells in their multi-potent NSC state. Now, Whitehead Institute scientists have created iNSCs that remain in the multi-potent state—without ongoing expression of reprogramming factors. This allows the iNSCs to self-renew repeatedly to generate cells in quantities sufficient for therapy.

Image of cells affected and unaffected by NPC gene mutation

Combination therapy a potential strategy for treating Niemann-Pick disease

May 15, 2014

Whitehead Institute researchers have identified a potential dual-pronged approach to treating Niemann-Pick type C (NPC) disease, a rare but devastating genetic disorder. By studying nerve and liver cells grown from NPC patient-derived induced pluripotent stem cells (iPSCs), the scientists determined that although cholesterol does accumulate abnormally in the cells of NPC patients, a more significant problem may be defective autophagy—a basic cellular function that degrades and recycles unneeded or faulty molecules, components, or organelles in a cell. Here, the scientists propose two drugs, one to reduce cholesterol buildup and the other to induce autophagy, as a strategy for treating NPC.

Graph of growth curves of wild type and amyloid-beta strains treated with clioquinol

Yeast model reveals Alzheimer’s drug candidate and its mechanism of action

March 3, 2014

Whitehead Institute scientists have used a yeast cell-based drug screen to identify a class of molecules that target the amyloid-β (Aβ) peptide involved in Alzheimer’s disease (AD).  

Microscope images showing different cellular phenotypes associated with cholesterol accumulation and autophagy impairment

Restarting stalled autophagy a potential approach to treating Niemann-Pick disease

January 8, 2014

Whitehead Institute researchers have determined that the lipid storage disorder Niemann-Pick type C1 (NPC1) disease is caused not only by defects in cholesterol processing but also in autophagy—a key cellular degradation pathway that malfunctions in many neurodegenerative diseases.

Image of a eraser erasing part of a neuron

Genetic mutation increases risk of Parkinson’s disease from pesticides

November 27, 2013

A team of researchers from Whitehead Institute and Sanford-Burnham Research Institute has brought new clarity to the picture of how gene-environmental interactions can kill nerve cells that make dopamine. The study uses patient-derived stem cells to show that a mutation in the α-synuclein gene causes increased vulnerability to pesticides, leading to Parkinson’s disease.

Schematic showing nerve cells and person with Parkinson's disease within a yeast cell

Yeast, human stem cells drive discovery of new Parkinson’s disease drug targets

October 24, 2013

Using a discovery platform whose components range from yeast cells to human stem cells, Whitehead Institute scientists have identified a novel Parkinson’s disease drug target and a compound capable of repairing neurons derived from Parkinson’s patients.

Images of the size of Rett model cells and their nuclei compared to control cells

Rett syndrome gene dysfunction redefined

October 3, 2013

Whitehead Institute researchers have discovered that the protein product of the gene MECP2, which is mutated in about 95% of Rett syndrome patients, is a global activator of neuronal gene expression. Mutations in the protein can cause decreased gene transcription, reduced protein synthesis, and severe defects in the AKT/mTOR signaling pathway.

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