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Application of molecular imaging combined with genetic screening in diagnosing MELAS, diabetes and recurrent
1Dr. Wang ZP, Department of Radiology, Beijing Tian Tan Hospital, Capital Medical University, Beijing 100050, China,
Aim:
We report molecular imaging combined with gene diagnosis in a family with 7 members who carried an A3243G mutation in mitochondrial tRNA and p.Thr 137 Met in cationic trypsinogen (PRSS1) gene presented with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), diabetes, and recurrent pancreatitis.
Material And Methods:
DNA sequencing was used to detect and validate mitochondrial DNA and PRSS1. We also verified that mitochondrial heterozygous mutations and c.410 C>T mutation causing p.Thr 137 Met could be detected in oral epithelial cells or in urine sediment cells. In addition, molecular imaging was carried out in the affected family members.
Results:
In this pedigree, MELAS syndrome accompanied by pancreatitis was an important clinical feature, followed by diabetes. Heteroplasmy of the mtDNA A3243G and c.410 C>T mutation of PRSS1 was found in all tissue samples of these patients, but no mutations were found in 520 normal control and normal individuals of the family. However, based on molecular imaging observations, patients with relatively higher lactate/pyruvate levels had more typical and more severe symptoms, particularly those of pancreatic disease (diabetes or pancreatitis).
Conclusions:
MELAS syndrome may be associated with pancreatitis. For the diagnosis, it is more reasonable to perform molecular imaging combined with gene diagnosis.
Insights
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) can co-occur with pancreatitis. Molecular imaging combined with gene diagnosis aids in diagnosing these complex conditions in affected families.
Area of Science:
- Genetics
- Molecular Biology
- Medical Diagnostics
Background:
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare genetic disorder.
- Pancreatitis and diabetes can present as co-occurring conditions.
- Genetic mutations in mitochondrial tRNA and cationic trypsinogen (PRSS1) are implicated.
Purpose of the Study:
- To investigate the combined presentation of MELAS, diabetes, and pancreatitis in a family.
- To explore the utility of molecular imaging alongside gene diagnosis for affected individuals.
- To identify specific genetic mutations associated with these complex symptoms.
Main Methods:
- DNA sequencing for mitochondrial DNA (mtDNA) and PRSS1 gene mutations.
- Detection of mutations in oral epithelial and urine sediment cells.
- Application of molecular imaging techniques in affected family members.
Main Results:
- A family with 7 members presented with MELAS, diabetes, and pancreatitis, carrying both A3243G mtDNA and p.Thr 137 Met PRSS1 mutations.
- Heteroplasmy of both mutations was confirmed in all patient tissue samples.
- Higher lactate/pyruvate levels correlated with more severe symptoms, especially pancreatic disease, as observed through molecular imaging.
Conclusions:
- MELAS syndrome may be associated with pancreatitis.
- Combined molecular imaging and gene diagnosis offer a more effective diagnostic approach.
- Understanding genotype-phenotype correlations is crucial for complex genetic disorders.
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