Leucocyte cell-derived chemotaxin 2 related amyloidosis: Difference between revisions
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==Historical Perspective== | ==Historical Perspective== | ||
* The first case of ALECT2 was discovered by Benson et al in 2008.<br /> | |||
==Classification== | ==Classification== | ||
==Pathophysiology== | ==Pathophysiology== | ||
* The pathogenesis of this disease is related to accumulation of a protein called LECT2 which was first isolated by Yamagoe et al n 1998. | |||
* LECT2 protein is a multifunctional factor involved in chemotaxis, inflammation, immunomodulation, and the damage/repair process. Though synthesized mainly by hepatocytes, it is also expressed in a variety of other cells in many organs, including vascular endothelial cells, smooth muscle cells, adipocytes, and epithelial cells such as renal tubular epithelial cells]. | |||
* Based on protein concentration estimates, systemic overexpression of LECT2 does not seem to be responsible for pathogenesis of ALECT2 ]. | |||
* According to the literature, ALECT2 involves G/A polymorphism affecting nucleotide 172 in exon 3 of the LECT2 protein that accounts for the presence of valine (in the place of isoleucine) at position 40 in the mature protein, and this substitution of the isoleucine with valine makes the protein unstable imparting an amyloidogenic property to the LECT2 protein [ | |||
* Alternately Benson et al. and Murphy et al. proposed that the disease could be due to interference in the LECT2 catabolic pathway or LECT2 transport, possibly resulting from a genetic defect which ultimately results in an increased local tissue concentration of LECT2 leading to amyloid fibril formation. | |||
* The kidney is the primary target of this disease. ' | |||
* Other common organs involved other than the kidney include liver, spleen, prostate, gastrointestinal tract, peripheral nervous system, and lungs. | |||
* Cardiac involvement never occurs, which gives this disease a survival advantage compared to other forms of amyloidosis. Other organs which are not involved include brain, pancreas, and fibroadipose tissue | |||
==Causes== | ==Causes== | ||
Revision as of 05:58, 30 October 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]
Synonyms and keywords:LECT2 amyloidosis
Overview
Historical Perspective
- The first case of ALECT2 was discovered by Benson et al in 2008.
Classification
Pathophysiology
- The pathogenesis of this disease is related to accumulation of a protein called LECT2 which was first isolated by Yamagoe et al n 1998.
- LECT2 protein is a multifunctional factor involved in chemotaxis, inflammation, immunomodulation, and the damage/repair process. Though synthesized mainly by hepatocytes, it is also expressed in a variety of other cells in many organs, including vascular endothelial cells, smooth muscle cells, adipocytes, and epithelial cells such as renal tubular epithelial cells].
- Based on protein concentration estimates, systemic overexpression of LECT2 does not seem to be responsible for pathogenesis of ALECT2 ].
- According to the literature, ALECT2 involves G/A polymorphism affecting nucleotide 172 in exon 3 of the LECT2 protein that accounts for the presence of valine (in the place of isoleucine) at position 40 in the mature protein, and this substitution of the isoleucine with valine makes the protein unstable imparting an amyloidogenic property to the LECT2 protein [
- Alternately Benson et al. and Murphy et al. proposed that the disease could be due to interference in the LECT2 catabolic pathway or LECT2 transport, possibly resulting from a genetic defect which ultimately results in an increased local tissue concentration of LECT2 leading to amyloid fibril formation.
- The kidney is the primary target of this disease. '
- Other common organs involved other than the kidney include liver, spleen, prostate, gastrointestinal tract, peripheral nervous system, and lungs.
- Cardiac involvement never occurs, which gives this disease a survival advantage compared to other forms of amyloidosis. Other organs which are not involved include brain, pancreas, and fibroadipose tissue