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ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.

Naif A M Almontashiri1, Essa Alharby1, Mohammed Saleh2

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Clinical Genetics
|October 14, 2024
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Summary

Malic enzyme 2 (ME2) deficiency is a newly identified cause of neurodevelopmental disorders (NDDs). This study identifies a novel ME2 gene variant linked to NDD, highlighting its crucial role in mitochondrial function.

Keywords:
ME2Krebs cycleNDDloss of functionmalaterecessive

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Area of Science:

  • Biochemistry
  • Genetics
  • Neuroscience

Background:

  • Malate is a key dicarboxylic acid in the tricarboxylic acid cycle.
  • Deficiencies in fumarate hydrolase (FH) and malate dehydrogenase (MDH) are linked to recessive neurodevelopmental disorders (NDDs).
  • Malic enzyme isoforms (ME1 and ME2) convert malate to pyruvate, but their role in Mendelian disease was unknown.

Purpose of the Study:

  • To investigate the genetic basis of a patient presenting with NDD and other symptoms.
  • To explore the role of malic enzyme 2 (ME2) in human health and disease.
  • To identify novel genetic causes of Mendelian neurodevelopmental disorders.

Main Methods:

  • Whole exome sequencing (WES) was performed on a patient with NDD.
  • A homozygous frameshift variant in the ME2 gene was identified.
  • Functional studies involving yeast ortholog deletion and complementation were conducted.

Main Results:

  • A novel homozygous frameshift variant (c.1379_1380delTT, p.Phe460fs*22) in the ME2 gene was found in the patient.
  • The identified variant resulted in a truncated and unstable ME2 protein.
  • Deletion of the yeast ortholog of ME2 caused growth arrest, rescued by ME2 re-expression, confirming ME2's essential role.

Conclusions:

  • This study reports the first Mendelian human disease caused by a biallelic variant in a malic enzyme gene, specifically ME2.
  • The findings support ME2 deficiency as a cause of recessive NDD.
  • Further research is needed to fully characterize ME2-associated recessive NDD.