Scavenger' cells in the nervous system linked to rare genetic disease Calibr, the drug development arm of Scripps Research, and other collaborators find microglia play a critical role in SMA disease progression.
September 30, 2022
LA JOLLA, CA Spinal muscular atrophy (SMA) is a devastating, rare genetic disease that causes muscle weakness and eventually atrophy all throughout the body. Scientists at Calibr, the drug development arm of Scripps Research, and additional partners have now identified how a critical immune cell known as the microglia impacts SMA.
Published in Glia in July 2022, the findings provide a foundational understanding of SMA and how the interconnected neuro-immune network influences the disease. These insights could help lead to more effective medicines that target the newly discovered pathways.
While there are three drugs currently on the market to treat SMA, they can be toxic and aren't completely effective at alleviating the life-threatening nature of the disease, says co-first author Zaida A. Gloria, a principal scientist at Calibr. As our discoveries indicate, we're beginning to understand the reason is because of just how multi-faceted the disease is. There's now promise in creating medicines that target these additional pathways, while improving lifespan and overall quality of life for patients.
SMA is characterized by a deletion or mutation in SMN1, the gene that produces the survival motor neuron (SMN) protein. Without this protein, the muscles that control activities like breathing, swallowing and walking begin to weaken. If left untreated, most patients with SMA don't survive past two years of age.
While SMA research has historically always centered on enhancing SMN protein expression, the researchers were interested in the supportive roles of other immune cells instead, such as the microglia. The microglia are cells responsible for eating up' dying cells and debris (a process called phagocytosis); migrating around the central nervous system; and sending chemical messengers to recruit additional helper cells to injury sites.
The microglia can be thought of as the nervous system's scavengers and surveyors they call out to the immune system if something is wrong or needs more attention, says co-first author Guzal Khayrullina, PhD, Uniformed Services University of the Health Sciences (USUHS) neuroscience graduate. We wanted to understand how reduced levels of SMN impacts this cell, as very limited research has specifically focused on this question before.
In the study, the researchers utilized mice with low levels of SMN protein, as well as induced pluripotent stem cells (iPSCs) taken from patients with SMA. iPSCs are made by taking a person's skin or blood cells and then reprogramming them back into their earlier, native state before they've become specialized into a specific cell type. This was an important component of the study, as there is not much work focusing on microglia differentiated from SMA patient-derived iPSCs.
In SMN-deficient mice, the team found the microglia in the lumbar region of the spinal cord have a rounded shape with reduced processes, which suggests these cells are in an activated state. By studying the microglia differentiated from SMA-patient iPSCs, they also saw that the SMN-deficient microglia had increased cell migration and phagocytosis. Taken together, these activities could potentially impact the SMA disease pathology overall.
These discoveries solidified our theory that SMA is not just a disease of motor neurons and is likely influenced by multiple different cell and tissue types, says senior author Barrington Burnett, PhD, associate professor and vice chair for research at USUHS. We can now explore how the SMN protein regulates the communications between microglia and motor neurons and the contributions of this interaction to the disease progression, and as a result, develop additional therapies that can make currently available treatment options even more effective.
The researchers plan to further examine the complex nervous and immune system networks involved in SMA, as well as study an additional brain cell type called astrocytes shown to be implicated in the disease.
The study was funded by the Vanier CIHR Doctoral Research Award; Frederick Banting and Charles Best CIHR Doctoral Research Award; Canadian Institutes of Health Research; and the National Institute of Neurological Disorders and Stroke.
In addition to Gloria, Khayrullina and Burnett, authors of the study, Survival motor neuron protein deficiency alters microglia reactivity, included Kristen A. Johnson of Calibr; Matthew Stinson, Natalya Belous, Elizabeth M. Bergman, Fritz W. Lischka, Jeremy Rotty and Clifton L. Dalgard of the Uniformed Services University of the Health Sciences; and Marc-Olivier Deguise, Sabrina Gagnon, Lucia Chehade and Rashmi Kothary of Ottawa Hospital Research Institute and the University of Ottawa.
Rare Diseases Calibr
North America Stories
14/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
14/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
14/11/2026
Newest Lenses, Horizon Anamorphic Seminar & Guided Lens Character Experience Highlight Creative Possibilities
At the 2026 Toru CAMERIMAGE Film Festival, ZEISS...
14/11/2026
Sonnet Announces Black Friday Sale on Select Products
Brie Clayton November 14, 2026
0 Comments
WHAT: Sonnet Technologies is having a sale on a select...
14/11/2026
Berklee Alumni Shine at the 2026 Latin Grammy Awards This year's winners included songwriters, engineers, and performers who contributed to acclaimed reco...
13/11/2026
The UIM E1 Series wraps its third season this week with the Bombay Sapphire E1 Miami GP, Nov. 11-14, on Biscayne Bay at the Miami Seaplane Base on Watson Island...
13/11/2026
In-venue and creative video staffers at the professional and collegiate level ha...
13/11/2026
Singer-songwriter Benson Boone will headline entertainment for the Discover NHL Winter Classic between the Utah Mammoth and Colorado Avalanche at Rice-Eccles St...
13/11/2026
Blackmagic Design has announced the Blackmagic Ambisonic Microphone, a 7th order ambisonic microphone array that captures spatial audio for immersive video prod...
13/11/2026
SMPTE has announced that The Studio B&H and Riedel Communications will provide the video infrastructure and communications technology for the Solutions Hub at t...
13/11/2026
The Hollywood Professional Association (HPA) has announced the theme and program focus for the 2027 HPA Tech Retreat, which takes place Feb. 14-18, 2027, in La ...
13/11/2026
Football Manager 27 Touch is available on Apple Arcade starting today. The game ...
13/11/2026
MotoGP has announced a two-year media rights agreement with ESPN covering the Un...
13/11/2026
Apple Sports, the free iPhone app, has added the Ultimate Fighting Championship (UFC) to its lineup of supported sports, in time for Saturday's UFC 334. The...
13/11/2026
The NBA and Fanatics Studios, the joint venture between Fanatics and entertainme...
13/11/2026
ESPN held its annual EDGE Innovation Conference last night and offered up an ove...
13/11/2026
Regional sports network gives Ithaca College, SUNY Cortland students a platform to thrive
One of the biggest games in Division III college football will be pla...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Blue Lucy, the workflow orchestration and integration platform for broadcasters, rights owners and localisation companies, today announced an integration with c...
13/11/2026
Krotos announces Black Friday offers on Studio Pro and Studio Max
Brie Clayton November 12, 2026
0 Comments
First-year annual plans start at US$195.99...
13/11/2026
Blackmagic Design Announces Blackmagic Ambisonic Microphone
Brie Clayton November 12, 2026
0 Comments
New 7th order ambisonic microphone with 108 MEMS...
13/11/2026
Meet the Berklee Student Setting Planetary Motion to Music With his compositional platform SoniKosmos, Javier Roqueni aims to make the universe the ultimate i...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , er...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , er...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Amagi, the media industry cloud company, today announced a partnership with Golden Times Media Technology (stock code 920021.BJ), a Beijing-based media and tech...
13/11/2026
CGI (TSX: GIB.A) (NYSE: GIB), one of the largest independent IT and business consulting services firms in the world, together with its Malaysian partner, Cedar ...
13/11/2026
SMPTE, the home for media professionals, technologists and engineers, today announced that The Studio B&H and Riedel Communications will provide the video infra...
13/11/2026
iWedia, a global leader in connected TV software solutions, will present its software-first approach to DRAM optimization at Android TV APAC Summit 2026 in Bang...
13/11/2026
From pediatric research to smart hospitals, AI is helping care teams spend less time on routine tasks and more time with patients.
Health systems and startups...
12/11/2026
Industry leaders examine how Dynamic Media Facility, Media eXchange Layer, and c...
12/11/2026
The junior Tar Heel is embracing the technical and creative challenges of live production while emerging as a leader and mentor in the control room...
12/11/2026
Gracenote, Nielsen's content intelligence business, has released its fifth a...
12/11/2026
RTL Deutschland will bring the NHL to free-to-air TV in Germany starting Nov. 30...
12/11/2026
Clear-Com supported On Air 2026, a 24-hour student-led broadcast connecting 45 u...
12/11/2026
uniqFEED has opened a Remote Operations Center (ROC) in Madrid, Spain. It is already operational, delivering virtual advertising for LaLiga matches. The ROC is ...
12/11/2026
Disney, ESPN and the NBA will present Dunk the Halls, the third real-time animated NBA game using Sony's Beyond Sports data visualization technology, on Chr...
12/11/2026
Van Wagner has launched Van Wagner RELAY, a digital platform for official athlet...
12/11/2026
Deal brings together two of the industry's most established graphics brands and significantly expands Vizrt's footprint in U.S. sports and regional broa...
12/11/2026
Euro TV Production GmbH of Austria has upgraded its outside broadcast vehicle with Lawo technology. The mc 36 Classic console in service since 2019 was replaced...
Scavenger' cells in the nervous system linked to rare genetic disease Calibr, the drug development arm of Scripps Research, and other collaborators find microglia play a critical role in SMA disease progression.
