Expert Reviewed By: Dr. Brandon Colby MD
Tryptophan 5-monooxygenase deficiency is a rare genetic disorder that has been associated with various health conditions, including non-small cell lung cancer, aggression-related behavior, ovarian cancer, and metabolic syndrome in schizophrenia patients. This article aims to provide an overview of the disorder, its diagnosis, and the potential benefits of genetic testing in managing the associated health conditions.
Understanding Tryptophan 5-Monooxygenase Deficiency
Tryptophan 5-monooxygenase is an enzyme involved in the synthesis of serotonin, a neurotransmitter that plays a crucial role in regulating mood, appetite, and sleep. The deficiency of this enzyme can lead to a range of health problems, as highlighted in the studies mentioned below:
Non-small cell lung cancer
A study titled MicroRNA-185-5p targets tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta to regulate non-small cell lung cancer progression found that miR-185-5p, a microRNA, is down-regulated in non-small cell lung cancer. Its overexpression inhibits malignant cell behaviors and tumor growth by negatively regulating YWHAZ, a protein associated with tryptophan 5-monooxygenase deficiency.
Aggression-related behavior
Research titled Predation Stress Causes Excessive Aggression in Female Mice with Partial Genetic Inactivation of Tryptophan Hydroxylase-2: Evidence for Altered Myelination-Related Processes shows that a moderate reduction in brain serotonin combined with environmental challenges results in behavioral changes in female mice, resembling aggression-related behavior and resilience seen in stressed male mutants.
Ovarian cancer
The study Inhibition of Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta (YWHAZ) Overcomes Drug Resistance and Tumorigenicity in Ovarian Cancer demonstrates that silencing YWHAZ restores sensitivity to chemotherapy drugs in resistant ovarian cancer cells and inhibits tumorigenicity, suggesting YWHAZ as a potential target for ovarian cancer therapy.
Metabolic syndrome in schizophrenia patients
Research titled Peripheral kynurenine-3-monooxygenase deficiency as a potential risk factor for metabolic syndrome in schizophrenia patients suggests that peripheral KMO deficiency might identify schizophrenia patients predisposed to metabolic syndrome. Attenuating its consequences could be a new target for the prevention and treatment of obesity and diabetes in these patients.
Diagnosing Tryptophan 5-Monooxygenase Deficiency
Diagnosing tryptophan 5-monooxygenase deficiency typically involves a combination of clinical evaluation, family history, and genetic testing. Genetic testing can identify mutations in the genes associated with the enzyme's production and provide valuable information for managing the associated health conditions.
Uses of Genetic Testing
Genetic testing can be beneficial in several ways for individuals with tryptophan 5-monooxygenase deficiency:
- Identification of at-risk individuals: Genetic testing can identify individuals who carry the gene mutations associated with the deficiency, allowing them to take preventive measures and manage their health more effectively.
- Targeted therapies: By understanding the genetic basis of the deficiency, researchers can develop targeted therapies to address the root cause of the associated health conditions. For example, the study on ovarian cancer suggests that targeting YWHAZ could potentially overcome drug resistance and tumorigenicity.
- Personalized treatment: Genetic testing can help healthcare providers tailor treatment plans for individuals with tryptophan 5-monooxygenase deficiency, taking into account their specific genetic makeup and associated health conditions.
In conclusion, tryptophan 5-monooxygenase deficiency is a rare genetic disorder with far-reaching health implications. Understanding, diagnosing, and utilizing genetic testing can help individuals with this deficiency manage their health more effectively and pave the way for the development of targeted therapies and personalized treatment plans.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)