Understanding MT-TS1 Gene MERRF/MELAS Overlap Syndrome
Mitochondrial diseases are a group of neuromuscular diseases caused by damage to the mitochondria, the tiny energy factories found inside most cells. Among these, the MT-TS1 gene MERRF/MELAS overlap syndrome represents a rare but significant condition that combines features of two distinct disorders: Myoclonic Epilepsy with Ragged Red Fibers (MERRF) and Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS). This overlap syndrome is caused by mutations in the mitochondrial DNA, specifically in the MT-TS1 gene, which plays a crucial role in mitochondrial protein synthesis.
Symptoms of MT-TS1 Gene MERRF/MELAS Overlap Syndrome
The symptoms of MT-TS1 gene MERRF/MELAS overlap syndrome can vary widely among affected individuals, reflecting the complex nature of the disease. However, some common symptoms include:
- Myoclonic epilepsy: Quick, involuntary muscle jerks.
- Muscle weakness and exercise intolerance.
- Ragged-red fibers: Abnormal muscle fibers seen under a microscope.
- Stroke-like episodes: Sudden and reversible episodes of neurological deficits.
- Encephalopathy: A general term for brain disease that can manifest as progressive dementia.
- Lactic acidosis: A buildup of lactic acid in the body, often leading to muscle pain and fatigue.
- Hearing loss.
- Short stature and/or skeletal abnormalities.
Due to the overlap of symptoms, diagnosing this syndrome can be challenging and requires careful clinical evaluation and genetic testing.
MT-TS1 Related Genetic Test
To accurately diagnose MT-TS1 gene MERRF/MELAS overlap syndrome, a specific genetic test is available. This test looks for mutations in the MT-TS1 gene, confirming the presence of the syndrome. Genetic testing not only aids in diagnosis but can also help in understanding the disease’s progression, potential treatments, and implications for family members.
Test Cost
The cost of the MT-TS1 related genetic test is 4400 AED. This test is a critical step towards a definitive diagnosis, enabling targeted management strategies for those affected by the syndrome.
Why Choose DNA Labs UAE?
At DNA Labs UAE, we are committed to providing our clients with accurate, confidential, and timely genetic testing services. Our state-of-the-art laboratory is equipped with the latest in genetic testing technology, ensuring that our clients receive the most reliable results. Our team of experts is dedicated to supporting you through every step of the testing process, from initial consultation to result interpretation.
For more information about the MT-TS1 gene MERRF/MELAS overlap syndrome MT-TS1 related genetic test, visit our website at DNA Labs UAE.
Understanding your genetic health is crucial for making informed decisions about your medical care. If you or a loved one is experiencing symptoms that suggest MERRF/MELAS overlap syndrome, consider speaking with a healthcare provider about the possibility of genetic testing. Early diagnosis and intervention can make a significant difference in managing the symptoms and improving the quality of life for those affected by this complex condition.
