SUMO and its role in human diseases
Kevin D Sarge1, Ok-Kyong Park-Sarge
1Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, Kentucky, USA.
International Review of Cell and Molecular Biology
|April 13, 2011
Summary
Sumoylation, a protein modification, impacts proteins linked to diseases like Alzheimer's and Parkinson's. New research shows sumoylation of amyloid precursor protein (APP) and lamin A is crucial for health.
Area of Science:
- Biochemistry
- Molecular Biology
- Cellular Regulation
Background:
- Protein modification through covalent attachment of small ubiquition-like modifier (SUMO) polypeptides, known as sumoylation, is a key regulatory mechanism.
- Sumoylation influences the function of numerous proteins, many of which are implicated in significant human diseases such as cancer, Huntington's, Alzheimer's, and Parkinson's diseases, as well as spinocerebellar ataxia 1 and amyotrophic lateral sclerosis.
Purpose of the Study:
- To identify and investigate the role of sumoylation in human disease-associated proteins.
- To explore the functional implications of sumoylation on amyloid precursor protein (APP) and lamin A.
Main Methods:
- Literature review of recent studies.
- Analysis of protein sumoylation.
- Investigation of disease-associated protein modifications.
Main Results:
- Two additional human disease-associated proteins, amyloid precursor protein (APP) and lamin A, have been identified as sumoylated.
- APP sumoylation was found to modulate Aβ peptide levels, indicating a potential role in Alzheimer's disease pathogenesis.
- Decreased lamin A sumoylation, resulting from mutations near its SUMO site, is implicated in familial dilated cardiomyopathy.
Conclusions:
- Sumoylation is a critical regulatory process with implications for a range of human diseases.
- Dysregulation of APP and lamin A sumoylation contributes to the development of Alzheimer's disease and familial dilated cardiomyopathy, respectively.
Related Concept Videos
01:28Role of Proteins in the Human Body
Proteins are the building block of life. They are also the most abundant macromolecules with as many diverse roles in the body. They are part of many structural components that provide unique shapes and structures to animal cells, tissues, and organs. In addition, they also act as biological catalysts and carry out several anabolic and catabolic reactions. Notably, some proteins are chemical messengers and regulate many critical processes, such as metabolism, growth, and development. They are...
01:12Loss of Tumor Suppressor Gene Functions
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
01:26Human Virome
The human body harbors a vast and diverse viral community known as the human virome. The virome includes bacteriophages that infect bacteria, and eukaryotic viruses that infect human cells. Transient dietary and environmental viruses also contribute to this dynamic ecosystem. Estimates suggest the human body may contain on the order of 10¹³ viral particles, though abundance varies widely by body site and detection method.Comprehensive characterization of the virome has become possible only with...
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:19Psychoneuroimmunology: Diabetes and Cancer
Chronic stress has been linked to both the onset and progression of serious health conditions, including Type 2 diabetes and cancer. Type 2 diabetes, a widespread chronic illness, is closely associated with obesity and insulin resistance, both of which often worsen under stress. Studies indicate that men experiencing high levels of chronic stress face a 45% higher risk of developing diabetes compared to those with minimal stress. Stress triggers physiological responses that elevate blood...
02:02Genomics
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...