DGAT2 revealed by the immunogold technique in Arabidopsis thaliana lipid bodies associated with microtubules

Kwiatkowska, Maria; Stępiński, Dariusz; Popłońska, Katarzyna; Wojtczak, Agnieszka; Polit, Justyna Teresa

doi:10.5603/fhc.2012.0058

Cited by 9 publications

(1 citation statement)

References 25 publications

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“…The DGAT2 encodes an acyl‐CoA:diacylglycerol acyltransferase that catalyzes the final step of TG biosynthesis [Cases et al., ]. The DGAT2 enzyme is a transmembrane protein that localizes on the ER and is associated with lipid droplets, mitochondria‐associated membranes, and microtubules [Stone et al., ; Kwiatkowska et al., ]. Many subtypes of axonal CMT are associated with mitochondrial dysfunction.…”

Section: Discussionmentioning

confidence: 99%

DGAT2Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease

et al. 2016

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Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and is a genetically and clinically heterogeneous disorder. We examined a Korean family in which two individuals had an autosomal-dominant axonal CMT with early-onset, sensory ataxia, tremor, and slow disease progression. Pedigree analysis and exome sequencing identified a de novo missense mutation (p.Y223H) in the diacylglycerol O-acyltransferase 2 (DGAT2) gene. DGAT2 encodes an endoplasmic reticulum-mitochondrial-associated membrane protein, acyl-CoA:diacylglycerol acyltransferase, which catalyzes the final step of the triglyceride (TG) biosynthesis pathway. The patient showed consistently decreased serum TG levels, and overexpression of the mutant DGAT2 significantly inhibited the proliferation of mouse motor neuron cells. Moreover, the variant form of human DGAT2 inhibited the axonal branching in the peripheral nervous system of zebrafish. We suggest that mutation of DGAT2 is the novel underlying cause of an autosomal-dominant axonal CMT2 neuropathy. This study will help provide a better understanding of the pathophysiology of axonal CMT and contribute to the molecular diagnostics of peripheral neuropathies.

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Section: Discussionmentioning

confidence: 99%