SRM
The SRM Gene: Unlocking Insights into Rare and Complex Diseases
Description
The SRM gene, also known as the spermidine synthase gene, plays a pivotal role in cellular metabolism and growth. Located on chromosome 7, this gene encodes the enzyme spermidine synthase, responsible for synthesizing the polyamine spermidine. Spermidine is an essential molecule involved in various cellular processes, including cell proliferation, differentiation, and apoptosis.
Associated Diseases
Mutations in the SRM gene have been linked to a range of rare and complex diseases, including:
- Genetic Hypertrophic Cardiomyopathy: A condition characterized by abnormal thickening of the heart muscle, potentially leading to heart failure.
- Ataxia-Telangiectasia: A rare neurodegenerative disorder that affects the nervous system, causing movement problems, immune system deficiencies, and increased susceptibility to cancer.
- Miller-Dieker Syndrome: A rare genetic condition that affects brain development, resulting in severe intellectual disability and distinctive facial features.
- Septo-Optic Dysplasia: A congenital disorder that affects the development of the optic nerves and the septum pellucidum in the brain.
- Coffin-Lowry Syndrome: A rare genetic condition characterized by intellectual disability, distinctive facial features, and skeletal abnormalities.
Did you Know ?
A study published in the journal "Genetics in Medicine" revealed that mutations in the SRM gene account for approximately 10-15% of cases of genetic hypertrophic cardiomyopathy. This finding highlights the significant role of the SRM gene in the development of this condition.
