TGFB1 and Alzheimer disease: Renard et al. (2013) discovered that an in-frame splice-site mutation in the MYH11 gene was related to higher levels of the TGF-β pathway activity in individuals with non-syndromic familial thoracic aortic aneurysms. Pannu et al. (2007), on the other hand, found no link between missense mutations in the MYH11 gene and an upregulation in TGF-β pathway activity in patients with non-syndromic thoracic aortic aneurysms and dissections. In general, most research has indicated that MYH11 can contribute to AD by promoting vascular disease and upregulating the TGF-β pathway.