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Published on: March 9, 2022
Psychiatric manifestations in a patient with a pathogenic variant in the MT-TL1 gene associated with MELAS
Anindita Gujrati1, Manjiri Chaitanya Datar2, Anushka Mukesh Makhija1
1Psychiatry, Bharati Vidyapeeth, Pune, Maharashtra, India.
Abstract:
MELAS (mitochondrial encephalopathy lactic acidosis and stroke-like episodes) syndrome is a condition characterised by varied systemic involvement with neurological manifestations. It is a rare, inherited, neurodegenerative disorder caused by mitochondrial dysfunction that leads to energy production disturbances. Psychiatric manifestations may be detected rarely in this genetic condition. We present a case of a female in her mid-40s who had a heteroplasmic mutation in the MT-TL1 gene associated with MELAS and developed frank psychiatric manifestations.
Insights
Mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS) is a rare neurodegenerative disorder. This case study highlights rare psychiatric manifestations in a MELAS patient with an MT-TL1 gene mutation.
Area of Science:
- Neurogenetics
- Mitochondrial Medicine
- Psychiatry
Background:
- MELAS syndrome is a rare inherited neurodegenerative disorder.
- It stems from mitochondrial dysfunction, impacting energy production.
- Neurological symptoms are common, but psychiatric issues are rare.
Purpose of the Study:
- To report a rare case of MELAS syndrome.
- To highlight the occurrence of psychiatric manifestations in MELAS.
- To investigate the genetic basis in this specific case.
Main Methods:
- Case report of a female patient in her mid-40s.
- Genetic analysis to identify mutations.
- Clinical assessment for neurological and psychiatric symptoms.
Main Results:
- The patient presented with a heteroplasmic mutation in the MT-TL1 gene.
- This genetic mutation is associated with MELAS syndrome.
- The patient developed significant psychiatric manifestations.
Conclusions:
- Psychiatric symptoms can occur in MELAS syndrome, though rarely.
- MT-TL1 gene mutations are linked to MELAS and its varied presentations.
- Further research is needed to understand the link between MELAS and psychiatric disorders.
