Sandbox GGC5: Difference between revisions

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=='''Titin'''==

Titin, in its longest isoform, has a molecular weight exceeding 3 MDa and is over 1.5 μm in length. Titin typically contains immunoglobulin (Ig) domains which are typically 110 amino acids in length, contain an internal disulfide bond and two layers of β-pleated sheets.<ref>PMID:31856237</ref> On the cellular level, titin is typically located within the nucleus of the cell; however, it can also be located within the cytoplasm. <ref>DOI 10.1002/ijch.201300024</ref>

Titin,one of the largest human protein, in its longest isoform, has a molecular weight exceeding 3 MDa and is over 1.5 μm in length. Titin typically contains immunoglobulin (Ig) domains which are typically 110 amino acids in length, contain an internal disulfide bond and two layers of β-pleated sheets.<ref>PMID:31856237</ref> On the cellular level, titin is typically located within the nucleus of the cell; however, it can also be located within the cytoplasm. <ref>DOI 10.1002/ijch.201300024</ref>

== '''Function''' ==

Titin is a key component in the assembly and function of vertebrate striated muscles. Titin provides connections at the level of individual micro-filaments and contributes to the fine balance of forces between the two halves of the sarcomere.

~~The~~ highly ordered macromolecular complex of the sarcomere ~~requires~~ the controlled integration of striated myofibrils in differentiating myocytes. The giant titin protein extends over on half of the sarcomeric unit.

Titin plays a vital role in the highly ordered macromolecular complex of the sarcomere structures and functions requiring the controlled integration of striated myofibrils in differentiating myocytes. The giant titin protein extends over on half of the sarcomeric unit.

In non-muscle cells, titin plays a role in chromosome condensation and chromosome segregation during mitosis.

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'''Myopathy, myofibrillar, 9, with early respiratory failure:'''

This disease is characterized by adult onset of weakness in proximal, distal, axial and respiratory muscles. The main symptoms of onset are pelvic girdle and neck weakness. Ultimately, the weakness will affect the proximal compartment of both the upper and lower limbs. Additional symptoms include varying degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. In extreme cases, respiratory involvement will often lead to the requirement for non-invasive treatment. The natural variant indicating this disease can be found at position 279 and it disrupts NBR1-binding. <ref>PMID:15802564</ref>

This disease is characterized by adult onset of weakness in proximal (shoulder, upper arm, pelvic area and thighs), distal (lower arms/legs, hands and feet), axial (trunk and head) and respiratory muscles. The main symptoms of onset are pelvic girdle and neck weakness. Ultimately, the weakness will affect the proximal compartment of both the upper and lower limbs. Additional symptoms include varying degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. In extreme cases, respiratory involvement will often lead to the requirement for non-invasive treatment. The natural variant indicating this disease can be found at position 279 and it disrupts NBR1-binding. <ref>PMID:15802564</ref>

'''Cardiomyopathy, familial hypertrophic 9:'''

This disease is a hereditary heart disorder characterized by ventricular hypertrophy. The hypertrophy is usually asymmetrical and often involves the interventricular septum. The symptoms of this disease include: difficult/labored breathing, fainting, collapse, palpitations and chest pains. These symptoms are ~~readily provoked~~ by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms ~~with~~ high risk of cardiac failure and sudden cardiac death. This disease is characterized by a variant in position 740. <ref name="cardio">PMID:10462489</ref>

This disease is a hereditary heart disorder characterized by ventricular hypertrophy. The hypertrophy is usually asymmetrical and often involves the interventricular septum (lower heart chambers). The symptoms of this disease include: difficult/labored breathing, fainting, collapse, palpitations and chest pains. These symptoms are often directly agitated by exercise or exertion. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms. Ultimately, this disease has a high risk of cardiac failure and sudden cardiac death. This disease is characterized by a variant in position 740. <ref name="cardio">PMID:10462489</ref>

'''Cardiomyopathy, dilated 1G:'''

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[[Image:Titin.JPG]]

'''This figure illustrates the ability of titin to coil and extend during muscle contraction and extension.'''<ref>PMID:10895161</ref>

'''This figure illustrates the ability of titin to coil and extend during muscle contraction and extension.'''<ref name="figure">PMID:10895161</ref>

Titin is a flexible filament containing a beaded substructure indicating the presence of multiple domains within the molecule. These multiple domains include: the immunoglobulin domain, the Fibronectin type-II domain, the PEVK (proline-glutamate-valine-lysine-enriched unique sequence region, the unique sequences and the kinase domain.

Titin is a flexible filament containing a beaded substructure indicating the presence of multiple domains within the molecule. These multiple domains include: the immunoglobulin domain, the Fibronectin type-II domain, the PEVK (proline-glutamate-valine-lysine-enriched unique sequence region, the unique sequences and the kinase domain. <ref name="figure" />

== '''Structural highlights''' ==

Sandbox GGC5: Difference between revisions

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@@ Line 1: / Line 1: @@
 =='''Titin'''==
 <StructureSection load='1TIT' size='340' side='right' caption='Caption for this structure' scene=''>
-Titin, in its longest isoform, has a molecular weight exceeding 3 MDa and is over 1.5 μm in length. Titin typically contains immunoglobulin (Ig) domains which are typically 110 amino acids in length, contain an internal disulfide bond and two layers of β-pleated sheets.<ref>PMID:31856237</ref> On the cellular level, titin is typically located within the nucleus of the cell; however, it can also be located within the cytoplasm. <ref>DOI 10.1002/ijch.201300024</ref>
+Titin,one of the largest human protein, in its longest isoform, has a molecular weight exceeding 3 MDa and is over 1.5 μm in length. Titin typically contains immunoglobulin (Ig) domains which are typically 110 amino acids in length, contain an internal disulfide bond and two layers of β-pleated sheets.<ref>PMID:31856237</ref> On the cellular level, titin is typically located within the nucleus of the cell; however, it can also be located within the cytoplasm. <ref>DOI 10.1002/ijch.201300024</ref>
 == '''Function''' ==
 Titin is a key component in the assembly and function of vertebrate striated muscles. Titin provides connections at the level of individual micro-filaments and contributes to the fine balance of forces between the two halves of the sarcomere.
-The highly ordered macromolecular complex of the sarcomere requires the controlled integration of striated myofibrils in differentiating myocytes. The giant titin protein extends over on half of the sarcomeric unit.
+Titin plays a vital role in the highly ordered macromolecular complex of the sarcomere structures and functions requiring the controlled integration of striated myofibrils in differentiating myocytes. The giant titin protein extends over on half of the sarcomeric unit.
 In non-muscle cells, titin plays a role in chromosome condensation and chromosome segregation during mitosis.
@@ Line 15: / Line 15: @@
 '''Myopathy, myofibrillar, 9, with early respiratory failure:'''
-This disease is characterized by adult onset of weakness in proximal, distal, axial and respiratory muscles. The main symptoms of onset are pelvic girdle and neck weakness. Ultimately, the weakness will affect the proximal compartment of both the upper and lower limbs. Additional symptoms include varying degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. In extreme cases, respiratory involvement will often lead to the requirement for non-invasive treatment. The natural variant indicating this disease can be found at position 279 and it disrupts NBR1-binding. <ref>PMID:15802564</ref>
+This disease is characterized by adult onset of weakness in proximal (shoulder, upper arm, pelvic area and thighs), distal (lower arms/legs, hands and feet), axial (trunk and head) and respiratory muscles. The main symptoms of onset are pelvic girdle and neck weakness. Ultimately, the weakness will affect the proximal compartment of both the upper and lower limbs. Additional symptoms include varying degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. In extreme cases, respiratory involvement will often lead to the requirement for non-invasive treatment. The natural variant indicating this disease can be found at position 279 and it disrupts NBR1-binding. <ref>PMID:15802564</ref>
 '''Cardiomyopathy, familial hypertrophic 9:'''
-This disease is a hereditary heart disorder characterized by ventricular hypertrophy. The hypertrophy is usually asymmetrical and often involves the interventricular septum. The symptoms of this disease include: difficult/labored breathing, fainting, collapse, palpitations and chest pains. These symptoms are readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. This disease is characterized by a variant in position 740. <ref name="cardio">PMID:10462489</ref>
+This disease is a hereditary heart disorder characterized by ventricular hypertrophy. The hypertrophy is usually asymmetrical and often involves the interventricular septum (lower heart chambers). The symptoms of this disease include: difficult/labored breathing, fainting, collapse, palpitations and chest pains. These symptoms are often directly agitated by exercise or exertion. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms. Ultimately, this disease has a high risk of cardiac failure and sudden cardiac death. This disease is characterized by a variant in position 740. <ref name="cardio">PMID:10462489</ref>
 '''Cardiomyopathy, dilated 1G:'''
@@ Line 40: / Line 40: @@
 [[Image:Titin.JPG]]
-'''This figure illustrates the ability of titin to coil and extend during muscle contraction and extension.'''<ref>PMID:10895161</ref>
+'''This figure illustrates the ability of titin to coil and extend during muscle contraction and extension.'''<ref name="figure">PMID:10895161</ref>
-Titin is a flexible filament containing a beaded substructure indicating the presence of multiple domains within the molecule. These multiple domains include: the immunoglobulin domain, the Fibronectin type-II domain, the PEVK (proline-glutamate-valine-lysine-enriched unique sequence region, the unique sequences and the kinase domain.
+Titin is a flexible filament containing a beaded substructure indicating the presence of multiple domains within the molecule. These multiple domains include: the immunoglobulin domain, the Fibronectin type-II domain, the PEVK (proline-glutamate-valine-lysine-enriched unique sequence region, the unique sequences and the kinase domain. <ref name="figure" />
 == '''Structural highlights''' ==