@punishmenthurts @filmfreak75 @actuallyautistic @autistics A researcher investigated comorbidity between myotonic #dystrophy and #autism, and they found a gene where a particular mutation results in mis-splicing of multiple other proteins coded by other genes, some of which also have autism correlations.
Like so many overhyped biochem discoveries, this isn’t the silver bullet discovery implied by the headline. Like the MANY other genes involved w/ASD, it helps to understand its biochem roots.

#Myotonic #dystrophy 2 (DM2) is a form of muscular dystrophy, a disease that leads to progressive muscle degeneration. It is caused by the expansion of a repetitive #DNA sequence containing multiple CCTG bases in the CNBP gene. In general, the sequence of nucleobases in the DNA carries the genetic information.
#Medical #Biology #sflorg
https://www.sflorg.com/2024/02/med02212402.html

Last Thursday, the FDA voted to approve Sarepta's microdystrophin gene therapy for #Duchenne muscular #dystrophy.
https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-treatment-certain-patients-duchenne-muscular-dystrophy

This was not an easy call, made on the basis of a biomarker rather than efficacy data. I wrote about it last month for Nature Medicine.

#genetherapy #drugdiscovery #drugdevelopment

https://www.nature.com/articles/d41591-023-00052-4

It’s not easy to distinguish between the dozens of #subtypes of limb girdle #muscular #dystrophy — a rare, #genetic muscle #disease characterized by weakness in the hips and shoulders that causes difficulty walking and lifting the arms. Until now. . .
#Medical #sflorg
https://www.sflorg.com/2023/06/med06172302.html

Going uner the knife tomorrow morning for a cornea transplant to treat Fuchs' Dystrophy. Grateful for modern medicine.

#surgery, #endothelial, #keratoplasty, #cornea, #transplant, #DMEK, #fuchs, #dystrophy, #ophthalmology