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
Most recent headlines
05/01/2027
Worlds first 802.15.4ab-UWB chip verified by Calterah and Rohde & Schwarz to be ...
04/08/2026
Dalet, a leading technology and service provider for media-rich organizations, t...
04/07/2026
April 7 2026, 19:00 (PDT) Detective Conan: Fallen Angel of the Highway Opens in...
01/06/2026
January 6 2026, 05:30 (PST) Dolby Sets the New Standard for Premium Entertainment at CES 2026
Throughout the week, Dolby brings to life the latest innovatio...
08/05/2026
For the second straight year, Miri Technologies Inc. has been honored with a pair of coveted awards at the broadcast, media and entertainment industry's pre...
08/05/2026
Nine Alumni Nominated for Tony Awards More than 20 alumni contributed to this year's Tony-nominated productions.
May 7, 2026
By
Tori Donahue
Boston Co...
08/05/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
08/05/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
08/05/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
08/05/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
08/05/2026
Liberty University on why broadcast technology isn't just a technical invest...
08/05/2026
COW Jobs: UGC, On-Camera Video Content
Brie Clayton May 7, 2026
0 Comments
UGC, On-Camera Video Content
April 17, 2026Documentary Editor - US,......
07/05/2026
Journalists reporting on Sudan are working in one of the most complex and fast-m...
07/05/2026
Multi-year partnership positions Victory+ as a free home for Dallas Cowboys orig...
07/05/2026
From sideline reporting to directing and producing, the talented sophomore is building a well-rounded foundation for a career in live sports production
In the ...
07/05/2026
Cobalt Digital has received two Future Best of Show awards at NAB Show 2026. The COBALT blueCORE platform was recognized by TV Tech, and the COBALT PACIFIC ULL-...
07/05/2026
ESPN analyst Mina Kimes will host the televised semifinals and finals of the 202...
07/05/2026
Bitmovin has announced that MUBI, the global film streaming platform, has selected Bitmovin as its cloud VOD encoding partner. Bitmovin's encoding infrastru...
07/05/2026
NBCUniversal Telemundo Enterprises and the U.S. Soccer Federation have announced...
07/05/2026
Angel City Football Club (ACFC) and Victory have announced a regional broadcast partnership bringing live match coverage to fans across the greater Los Angeles...
07/05/2026
Spiideo has announced the launch of AI Highlights inside Spiideo Play, its automated sports production platform. AI Highlights combines video, event data, audio...
07/05/2026
Leostream Corporation has announced a unified remote access ecosystem for high-p...
07/05/2026
The Atlanta Dream has partnered with Victory to stream all locally broadcast Dream games for free, expanding the team's digital distribution strategy and g...
07/05/2026
Riedel Communications has announced the appointment of Marc Engroff as Chief Fin...
07/05/2026
SES and ARD, Germany's largest public broadcasting network, have announced a long-term extension of their satellite distribution partnership through 2039. U...
07/05/2026
UpLight Technologies delivers a flexible video and lighting system for a new televised sportLaunching the Pro Cheer League required more than creating a compell...
07/05/2026
Full Day Productions and GSE Worldwide have announced Spikes Under the Lights, a...
07/05/2026
Seit dem Start im Jahr 2023 hat DJ (Beta) das personalisierte H rerlebnis von 94...
07/05/2026
Da quando stata presentata nel 2023, DJ (beta) ha aiutato a definire un'esperienza d'ascolto pi personalizzata per 94 milioni di utenti Spotify Premi...
07/05/2026
Since launching in 2023, DJ (beta) has helped shape a more personalized listenin...
07/05/2026
Desde o lan amento em 2023, o DJ (beta) j ajudou a deixar a experi ncia de ouvi...
07/05/2026
From our earliest days, Spotify has been built on a simple principle: Great audio should be easy to reach. It's what's driven us to expand from music to...
07/05/2026
Asian and Pacific Islander artists continue to shape the global soundscape, pushing creative boundaries and connecting with fans worldwide. This Asian & Pacific...
07/05/2026
Company announce long-requested choir instrument
In the latest expansion of their Symphonic Elements series, UJAM have introduced an all-new vocal instrumen...
07/05/2026
Modular-inspired sound generation with digital control
Buchla have introduced Ziggy, a new compact synthesizer built around the company's complex oscill...
07/05/2026
Combines analogue voices with digital synthesis and sequencing
Polyend have announced Drums, a new hybrid analogue and digital drum machine that combines sy...
07/05/2026
Control surface now officially supports four DAWs
When Nektar launched the Panorama CS12 control surface, it worked exclusively with Apple's Logic Pro, ...
07/05/2026
In the first quarter 2026, SGL Carbon generated consolidated sales of 184.5 million, which was 49.8 million, or 21.3%, lower than in the prior year (Q1 2025: ...
07/05/2026
Rohde & Schwarz and Greenerwave achieve precise and fast ESA antenna characteriz...
07/05/2026
Two multi-role L3Harris products - the Red Wolf launched effects vehicle and SK...
07/05/2026
L3Harris will be developing key features of a secure and resilient digital infra...
07/05/2026
Alysa Liu and Shohei Ohtani Help Drive Viewership as 91 of the Top 100 Broadcast...
07/05/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
07/05/2026
Cobalt Digital Wins Two Future Best of Show Awards at 2026 NAB Show
Manufacturer Recognized by TV Tech and TVBEurope for Innovation in signal processing
Cobal...
07/05/2026
Software and hardware platforms, AI power and user-friendliness on show...
07/05/2026
Intinor will demonstrate its latest technical enhancements for the Direkt series at BroadcastAsia 2026. With a continued focus on reliable contribution and remo...
07/05/2026
Bitmovin has announced that MUBI has chosen Bitmovin as its cloud VOD encoding partner, replacing MUBI's legacy on premises encoding setup to improve scalab...
07/05/2026
Meet Graduates from Berklees Class of 2026 Members of this years graduating class reflect on their proudest moments at Berklee and look ahead to whats next.
...
07/05/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
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.
