We’re at the Day 4 prompt for Ehlers Danlos Syndrome and Hypermobility Spectrum Disorder awareness month, and today, I would like to shine a light on a lesser known type of EDS, Myopathic EDS (mEDS). Please also ignore when I call this episode 2 in the episode, I got mixed up!
I’m sharing this type, not only because its rare, but there’s an outside chance it could affect me. I have a Variant of Unknown Significance (VUS) in my COL12A1 gene, which is the gene affected in mEDS. At this stage, its not considered to be a problem, but given my HSD (and possible hEDS), I keep up with the research anyway.
I talk a lot about research in today’s episode, so here are the research papers I either reference directly or refer to as ‘research‘ (I’ve also forgotten more than I remember about attribution formatting, so I’ve tried my best!)
‘A critical view on conservative mutations’ , Jonson, H; Petersen, S, Protein Engineering vol no.14 no.6 pp.3 97-402, 2001.
‘Substitution of aspartic acid with glutamic acid increases the unfolding transition temperature of a protein’, Lee, Duck Yeon; Kim, Kyeong-Ae; et al., DOI: 10.1016/j.bbrc.2004.06.031
‘Myopathic Ehlers Danlos’, https://www.ehlersdanlosaus.com/myopathic-meds
‘Type XII Collagen’ - Manon-Jensen, T; Karsdal, M.A, Biochemistry of Collagens. Laminins and Elastin, 2016.
‘Joint contractures’ - Campbell MD, T. Mark; Trudel MD, Guy, Essentials of Physical Medicine and Rehabilitation (Fourth Edition), 2020.
‘Targeted conditional collagen 12 deletion alters tendon functio'n’ - Fung et al., Matrix Biology Plus 16 (2022) 100123.
‘Dominant Collagen XII mutations cause a distal myopathy’ - Mohassel, P; Liewluck, T; Ying, H, et al., Annals of Clinical and Translational Neurology 2019; 6(10)
‘Nove defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant - specific alterations in the extracellular matrix’, Delbaere, S; Dhooge, T; Syx, Delfin; et al., Genetics in Medicine vol 22, Number 1, January 2020.
‘A novel COL12A1 variant expands the clinical picture of congential myopathies with extracellular matrix defects’ - Punetha, J; Kesari, A; Hoffman, E; et al., Muscle Nerve 2017 February ;55(2): 277-281.
‘Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice’ - Zou, Y; Zwolanek, D; Izu, Y; et al., Human Molecular Genetics, 2014, vol. 23, no. 9.
‘Collagen XII mediated cellular and extracellular mechanisms regulate establishment of tendon structure and function’ - Izu, Y; Adams, S; Connizzo, B; et al., Matrix Biology (2021) 95, 52-67.
‘Collagen type XII is undetectable in keratoconus Bowman’s layer’ - http://dx.doi.org/10.1136/bjo-2022-322180.
