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“Cardiomyopathy (dilated)”, Victor McKusick, Mendelian Inheritance in Man, 1966. 心肌病(扩张)。(DCM).

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Here I present: “Cardiomyopathy (dilated)”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 心肌病(扩张)。(DCM).

INTRODUCTION.

What is dilated cardiomyopathy (DCM)? Any disorder that affects the heart muscle is called a cardiomyopathy. Cardiomyopathy causes the heart to lose its ability to pump blood. Dilated means that the cardiac  muscle is thin and balloon (shown ABOVE).  The protein “Titin” is responsible for dilated cardiomyopathy.  

Titin is a protein that in humans is encoded by the TTN gene.  The protein, which is over μm in length, functions as a molecular spring that is responsible for the passive elasticity of muscle. It comprises 244 individually folded protein domains connected by unstructured peptide sequences. These domains unfold when the protein is stretched and refold when the tension is removed.  

There is evidence that the Titin (TTN) gene is on cytogenetic location 2q31.2 and genomic coordinates 2:178,525,989-178,807,423 .  The screenshot of the TTN gene 281,435 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TTN in the cytogenetic location are listed BENEATH.

Coordinate  Symbol  Genomic Name.
2:178,431,414  PRKRA, Protein kinase, interferon-inducible double-stranded RNA-dependent activator
2:178,451,378  PJVK Pejvakin
2:178,463,664  FKBP7 FK506-binding protein 7
2:178,480,457  PLEKHA3 Pleckstrin protein, family A, member 3
2:178,525,989  TTN Titin
2:178,814,978  CCDC141 Coiled-coil domain-containing protein 141
2:179,441,982  ZNF385B Zinc finger protein 385B
2:179,700,001  DA10 Arthrogryposis, distal, type 10
2:179,860,836  MIR1258 Micro RNA 1258
2:179,944,876  CWC22 CWC22 spliceosome-associated protein 

 

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