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Expanded ataxin-3 in SCA3 perturbs cellular signaling by hyperactivating the ERK branch of the MAPK cascade while inhibiting pro-apoptotic pathways, producing an imbalanced survival-death response that accelerates neurodegeneration 96

Major Criteria Family history of vEDS with a documented causative variant in COL3A1 Arterial rupture at a young age Spontaneous sigmoid colon perforation in the absence of known diverticular disease or other bowel pathology Uterine rupture during the third trimester in the absence of previous C-section and/or severe peripartum perineum tears Carotid-cavernous sinus fistula (CCSF) formation in the absence of trauma Minor Criteria Bruising unrelated to identified trauma and/or in unusual sites such as the cheeks and back Thin, translucent skin with increased venous visibility Characteristic facial appearance Spontaneous pneumothorax Acrogeria Talipes equinovarus Congenital hip dislocation Hypermobility of small joints Tendon and muscle rupture Keratoconus Gingival recession and gingival fragility Early-onset varicose veins (under age 30 and starting before pregnancy if female) Arthrochalasia EDS (aEDS) If a person meets the diagnostic criteria for aEDS, genetic testing should be done to confirm the diagnosis

It is also has been associated with skin lightening ability

Supports Antioxidant Defense Glutathione is a powerful antioxidant that helps neutralize free radicals, protecting cells from oxidative damage and supporting overall cellular health