Sandbox GGC11: Difference between revisions
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'''Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin''' | '''Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin''' | ||
This is another form of myopathy myofibril, but it happens in infants. It is a chronic neuromuscular disorder characterized by disintegration of sarcomere Z disc and myofibrils. MFMFIH-CRYAB has onset on the first weeks of life after the neonatal period. Affected infants show rapid muscular rigidity of trunks and limbs which is associated with increasing respiratory difficulties resulting in death before the age of 3. <ref>PMID:21337604</ref> | This is another form of myopathy myofibril, but it happens in infants. It is a chronic neuromuscular disorder characterized by disintegration of sarcomere Z disc and myofibrils. MFMFIH-CRYAB has onset on the first weeks of life after the neonatal period. Affected infants show rapid muscular rigidity of trunks and limbs which is associated with increasing respiratory difficulties resulting in death before the age of 3. <ref>PMID:21337604</ref> | ||
'''Dilated Cardiomyopathy''' | |||
DCM is known to be caused by mutations sarcomere proteins including alpha crystallin b and titin also known as connectin. It's a condition where the heart muscle is enlarged and weakened. DCM is characterized by the dilation of ventricles accompanied by systolic dysfunction which can result in heart failure and arrhythmias. Alpha crystallin b is associated with this disease because a missense mutation of R157H was found in familial DCM. <ref>PMID:16483541</ref> | |||
== Relevance == | == Relevance == | ||
Alpha Crystallin A 1-172 is found at nearly 2 folds higher in diabetic lenses than an aged matched control lens. In humans, the alpha A gene is found in chromosome 21 and encodes for 173 amino acid residues while the alpha B gene is found in chromosome 11 and encodes for 175 amino acids.<ref name="alpha" /> In mammalian lens, the molar ratio between alpha A and alpha B is a 3 to 1 ratio. <ref>PMID:20836128</ref> | Alpha Crystallin A 1-172 is found at nearly 2 folds higher in diabetic lenses than an aged matched control lens. In humans, the alpha A gene is found in chromosome 21 and encodes for 173 amino acid residues while the alpha B gene is found in chromosome 11 and encodes for 175 amino acids.<ref name="alpha" /> In mammalian lens, the molar ratio between alpha A and alpha B is a 3 to 1 ratio. <ref>PMID:20836128</ref> | ||
