A groundbreaking study, recently published in Nature Communications, sheds light on a newly identified subtype of muscular dystrophy, revealing an unsuspected role of SNUPN gene in muscle cell function.
The researchers embarked on a broad investigation to decipher the genetic underpinnings of a mysterious condition identified in a case evaluated at Koç University Hospital.
18 new patients recruited from 11 different countries with similar muscular dystrophy and neurological symptoms revealed a potentially wider prevalence of this condition than initially presumed. Through deep genetic and functional analyses on patient’s cells and tissues, the team identified alterations in the SNUPN as the causative factor for this debilitating disorder.
"This study represents a significant leap forward in our understanding and diagnosis of muscular dystrophies" remarked the author. "Our findings underscore for the first time the critical role of the Snurportin-1 protein encoded by the SNUPN gene in maintaining the structural integrity and function of muscle cells."
The illness shares similarities with SMA, not just in its impact on muscle tissue, but also in its progressive course and potential lethality. The Snurportin-1 protein involved in the newly identified disease interacts within the cell with the protein causing SMA.
Since SMA treatment is currently applied but still lacks full efficacy, ongoing research aims to provide evidence that may help SMA patients as well. Thanks to the animal model that has been generated in the zebrafish laboratory, researchers will continue to explore the role of this protein in muscle homeostasis and develop new treatment strategies.
Latest News
Men with gene mutations are…
By newseditor
Posted 17 May
B cell oxidative phosphoryl…
By newseditor
Posted 17 May
Human brain gene therapy us…
By newseditor
Posted 16 May
Small-molecular mimic of a…
By newseditor
Posted 16 May
Centromere structure and ch…
By newseditor
Posted 16 May
Other Top Stories
How fish brain responds to beta-amyloid challenge?
Read more
Delivering synthetic nanomaterial to prevent the scarring after hea…
Read more
Tooth enamel damage from mutation of a gene
Read more
Brain's emotional center contributes to eating for pleasure!
Read more
Disrupting protein-RNA interaction prevents neurotoxicity in ALS
Read more
Protocols
Breast cancer-on-chip for p…
By newseditor
Posted 16 May
Methods for making and obse…
By newseditor
Posted 15 May
Mime-seq 2.0: a method to s…
By newseditor
Posted 13 May
Improved detection of DNA r…
By newseditor
Posted 09 May
Single-cell adhesive profil…
By newseditor
Posted 07 May
Publications
Obesity-induced blood-brain…
By newseditor
Posted 18 May
CRISPR/Cas9 model of prosta…
By newseditor
Posted 17 May
Modulation of host immunity…
By newseditor
Posted 17 May
Variability in cell divisio…
By newseditor
Posted 17 May
Biallelic BORCS8 variants c…
By newseditor
Posted 17 May
Presentations
Hydrogels in Drug Delivery
By newseditor
Posted 12 Apr
Lipids
By newseditor
Posted 31 Dec
Cell biology of carbohydrat…
By newseditor
Posted 29 Nov
RNA interference (RNAi)
By newseditor
Posted 23 Oct
RNA structure and functions
By newseditor
Posted 19 Oct
Posters
A chemical biology/modular…
By newseditor
Posted 22 Aug
Single-molecule covalent ma…
By newseditor
Posted 04 Jul
ASCO-2020-HEALTH SERVICES R…
By newseditor
Posted 23 Mar
ASCO-2020-HEAD AND NECK CANCER
By newseditor
Posted 23 Mar
ASCO-2020-GENITOURINARY CAN…
By newseditor
Posted 23 Mar