Sandbox Reserved 1777: Difference between revisions

Line 44:

=Implications=

The SHOC2-MRAS-PP1C complex's key role in the regulation of the MAPK-RAF pathway means that minor changes in its structure or function can have drastic biological consequences. Unregulated activation of the MAPK pathway is the cause of several human cancers due to unchecked cell division and proliferation ~~'''(REF)'''~~. Mutations that stabilize the interactions of the SMP complex enhances PP1C phosphatase activity <Ref name="Jajian" />, leading to increased RAF signaling and accelerated cell division.

The SHOC2-MRAS-PP1C complex's key role in the regulation of the MAPK-RAF pathway means that minor changes in its structure or function can have drastic biological consequences. Unregulated activation of the MAPK pathway is the cause of several human cancers due to unchecked cell division and proliferation<ref name="Kwan" />. Mutations that stabilize the interactions of the SMP complex enhances PP1C phosphatase activity <Ref name="Jajian" />, leading to increased RAF signaling and accelerated cell division. Most SHOC2 or PP1C mutations alter residues that are the direct contact points, stabilizing the interaction between the two proteins. Mutations to MRAS lead to persistent loading of GTP, leading to consistent activation of the cell signaling pathway<ref name="Kwan" />.

The unregulated MAPK pathway is also responsible for a multitude of developmental disorders commonly known as [https://dceg.cancer.gov/research/what-we-study/rasopathies#:~:text=RASopathies%20are%20a%20group%20of,to%20grow%20and%20work%20properly. RASopathies] <Ref name="Lavoie" />. One such RASopathy caused by the mutation of a RAF kinase is known as [https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/symptoms-causes/syc-20354422 Noonan Syndrome] (NS), which enhances complex formation by stabilizing the interactions of each member<ref name="Kwan" />. NS is a genetic disorder that can prevent normal development ~~in different parts of~~ the ~~body in a variety of ways. NS patients often have unusual facial characteristics, short stature~~, a ~~variety of heart defects and disease, and other physical problems and developmental delays~~<Ref name= 'van der Burgt'> van der Burgt, I. Noonan syndrome. Orphanet J Rare Dis 2, 4 (2007). doi: 10.1186/1750-1172-2-4 [https://doi.org/10.1186/1750-1172-2-4. DOI: 10.1186/1750-1172-2-4]. </Ref>.

The unregulated MAPK pathway is also responsible for a multitude of developmental disorders commonly known as [https://dceg.cancer.gov/research/what-we-study/rasopathies#:~:text=RASopathies%20are%20a%20group%20of,to%20grow%20and%20work%20properly. RASopathies] <Ref name="Lavoie" />. One such RASopathy caused by the mutation of a RAF kinase is known as [https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/symptoms-causes/syc-20354422 Noonan Syndrome] (NS), which enhances complex formation by stabilizing the interactions of each member<ref name="Kwan" />. NS is a genetic disorder that can prevent normal development during the neonatal period, leading to difficulties with feeding and a failure to thrive<Ref name= 'van der Burgt'> van der Burgt, I. Noonan syndrome. Orphanet J Rare Dis 2, 4 (2007). doi: 10.1186/1750-1172-2-4 [https://doi.org/10.1186/1750-1172-2-4. DOI: 10.1186/1750-1172-2-4]. </Ref>. The more characteristic features of NS become more obvious in infancy and childhood. NS patients often have unusual facial characteristics, short stature, a variety of heart defects and disease, and other physical problems and developmental delays<ref name="van der Burgt" />.

</StructureSection>

== References ==

Sandbox Reserved 1777: Difference between revisions

Navigation menu

Page actions

Page actions

Personal tools

Navigation

Search

Tools

@@ Line 44: / Line 44: @@
 =Implications=
-The SHOC2-MRAS-PP1C complex's key role in the regulation of the MAPK-RAF pathway means that minor changes in its structure or function can have drastic biological consequences. Unregulated activation of the MAPK pathway is the cause of several human cancers due to unchecked cell division and proliferation '''(REF)'''. Mutations that stabilize the interactions of the SMP complex enhances PP1C phosphatase activity <Ref name="Jajian" />, leading to increased RAF signaling and accelerated cell division.
+The SHOC2-MRAS-PP1C complex's key role in the regulation of the MAPK-RAF pathway means that minor changes in its structure or function can have drastic biological consequences. Unregulated activation of the MAPK pathway is the cause of several human cancers due to unchecked cell division and proliferation<ref name="Kwan" />. Mutations that stabilize the interactions of the SMP complex enhances PP1C phosphatase activity <Ref name="Jajian" />, leading to increased RAF signaling and accelerated cell division. Most SHOC2 or PP1C mutations alter residues that are the direct contact points, stabilizing the interaction between the two proteins. Mutations to MRAS lead to persistent loading of GTP, leading to consistent activation of the cell signaling pathway<ref name="Kwan" />.
-The unregulated MAPK pathway is also responsible for a multitude of developmental disorders commonly known as [https://dceg.cancer.gov/research/what-we-study/rasopathies#:~:text=RASopathies%20are%20a%20group%20of,to%20grow%20and%20work%20properly. RASopathies] <Ref name="Lavoie" />. One such RASopathy caused by the mutation of a RAF kinase is known as [https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/symptoms-causes/syc-20354422 Noonan Syndrome] (NS), which enhances complex formation by stabilizing the interactions of each member<ref name="Kwan" />. NS is a genetic disorder that can prevent normal development in different parts of the body in a variety of ways. NS patients often have unusual facial characteristics, short stature, a variety of heart defects and disease, and other physical problems and developmental delays<Ref name= 'van der Burgt'> van der Burgt, I. Noonan syndrome. Orphanet J Rare Dis 2, 4 (2007). doi: 10.1186/1750-1172-2-4 [https://doi.org/10.1186/1750-1172-2-4. DOI: 10.1186/1750-1172-2-4]. </Ref>.
+The unregulated MAPK pathway is also responsible for a multitude of developmental disorders commonly known as [https://dceg.cancer.gov/research/what-we-study/rasopathies#:~:text=RASopathies%20are%20a%20group%20of,to%20grow%20and%20work%20properly. RASopathies] <Ref name="Lavoie" />. One such RASopathy caused by the mutation of a RAF kinase is known as [https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/symptoms-causes/syc-20354422 Noonan Syndrome] (NS), which enhances complex formation by stabilizing the interactions of each member<ref name="Kwan" />.  NS is a genetic disorder that can prevent normal development during the neonatal period, leading to difficulties with feeding and a failure to thrive<Ref name= 'van der Burgt'> van der Burgt, I. Noonan syndrome. Orphanet J Rare Dis 2, 4 (2007). doi: 10.1186/1750-1172-2-4 [https://doi.org/10.1186/1750-1172-2-4. DOI: 10.1186/1750-1172-2-4]. </Ref>. The more characteristic features of NS become more obvious in infancy and childhood. NS patients often have unusual facial characteristics, short stature, a variety of heart defects and disease, and other physical problems and developmental delays<ref name="van der Burgt" />.
 </StructureSection>
 == References ==
 <references/>