2019 Year 12 IB Extended Essays

Cardio myocytes

Mef2c

Low (13+)

 Maintaining the differentiated state of muscles  Deletions/mutations associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation  Involved in the development of cardiac mesoderm  Associated with Double Outlet Right ventricle and Tricuspid Atresia  Encodes for protein expressed in the heart, aorta and smooth muscle cells  Play a crucial role in cardio genesis  Functions in heart formation and development  Essential for atrial, ventricular development  Mutation causes atrial septal defect and tetralogy of Fallot  Development of the eye, tooth and abdominal organs  Mutations associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly  Expressed specifically in cardiac and skeletal muscle precursors  Targeted deletion of this gene in mice disrupted maturation of cardiomyocytes and interfered with the formation of the right ventricle. (Gottlieb, et al., 2002)  Encodes for a protein that stimulates both cell proliferation and differentiation  Participate in cell cycle regulation apoptosis, cell growth, and cell differentiation  Involved in human T-cell Leukemia virus 1 infection by binding to Tax, a viral regulatory protein  Involved in heart development and specification of limb identity  Mutations associated with Holt-Oram syndrome

Cardio myocytes Cardio myocytes Cardio myocytes Cardio myocytes

Mesp1

Low (13+)

Myocd

Medium (6)

Nkx2.5

High (0)

Pitx2c

Low (13+)

Cardio myocytes

Smyd1

High (2)

Cardio myocytes

Srf

Medium (11)

Cardio myocytes

Tbx5

Medium (7)

The specificity levels in the above table is then graphed to give a visual representation of the data:

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