ACSS3
Title: Unraveling the Enigma of ACSS3: A Critical Enzyme in Cellular Metabolism and Disease
Description
ACSS3, also known as acyl-CoA synthetase short-chain family member 3, is an enzyme that plays a crucial role in cellular metabolism, particularly in fatty acid activation. It catalyzes the conversion of short-chain fatty acids (SCFAs) into acyl-CoA esters, which are essential intermediates for various metabolic pathways, including energy production, lipid synthesis, and cell signaling.
Associated Diseases
ACSS3 deficiency has been linked to several health conditions, including:
- Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes (MELAS): Mutations in the ACSS3 gene can lead to MELAS, a rare genetic disorder characterized by recurrent stroke-like episodes, seizures, and muscle weakness.
- Non-Alcoholic Fatty Liver Disease (NAFLD): ACSS3 has been implicated in the development of NAFLD, a common liver condition associated with obesity and metabolic syndrome. Impaired ACSS3 activity can disrupt fatty acid metabolism in the liver, leading to fat accumulation and inflammation.
- Neurological Disorders: ACSS3 is expressed in the brain and has been linked to neurodegenerative diseases such as Alzheimer‘s and Parkinson‘s. Dysregulated ACSS3 activity may contribute to mitochondrial dysfunction and oxidative stress in these conditions.
Did you Know ?
According to recent research, approximately 1 in every 20,000 people have mutations in the ACSS3 gene. These mutations can range from single nucleotide substitutions to large deletions or insertions, and their severity can vary widely.
