| |
Age (y)
|
Sex
|
Disease type
|
Disease stage
|
Familial MMD
|
EC/IC bypass
|
Comorbidity
|
Brain lesion
|
rs112735431 (RNF213)
|
|---|
|
at sampling
|
at onset
|
|---|
|
Circulating miRNome microarray analysis
|
|
MMD-Discordant Monozygotic Twins
|
|
Affected Twin
|
12
|
3
|
F
|
TIA
|
3
|
Yes
|
Yes
|
No
|
No
|
AG
|
|
Non-affected Twin
|
12
|
–
|
F
|
–
|
–
|
Yes
|
–
|
No
|
No
|
AG
|
|
Non-Twin cohort
|
|
MMD, n = 9
|
49.7 ± 5.4
|
37.3 ± 7.3
|
66.7%
|
All TIA
|
3
|
56.0%
|
100%
|
11%
|
67%
|
All AG
|
|
Control, n = 10
|
51.7 ± 3.6
|
–
|
70%
|
–
|
–
|
0%
|
0%
|
0%
|
–
|
All GG
|
|
P-value
|
0.75
| |
1.0
| | | | | | | |
|
iPSEC-microRNA and gene expression analysis
|
|
MMD, n = 3
|
41.0 ± 3.6
|
39.1 ± 4.0
|
67%
|
All TIA
|
3
|
TIA
|
67%
|
33%
|
0%
|
All AG
|
|
Control, n = 3
|
50.0 ± 2.0
|
–
|
0%
|
–
|
–
|
0%
|
0%
|
0%
|
–
|
All GG
|
- Disease stage indicates MRA grade of the advanced hemisphere if a difference between hemispheres exists. Comorbidity observed in study participants was hypertension. Age (years) was expressed as the mean ± SEM and Disease stage was expressed as median in the non-twin cohort. F female, EC/IC bypass: extracranial-intracranial bypass, TIA transient ischemic attack. A: minor and G: major allele for rs112735431 of the RNF213 gene
