Mitochondrial Complex III Deficiency

DNA code analysis

In previous posts we looked at a review by Dose J, Huebbe P, Nebel A and Rimbach G titled  ‘APOE4 genotype and stress response – a mini review’. Dose and colleagues noted evidence that APOE4 binds to mitochondrial complexes III and IV.

I looked at ‘mitochondrial complex III deficiency’ in medline which retrieved 20 references including this paper by Ardissone and colleagues. Ardissone focused specifically on TTC19 Defects leading to mitochondrial complex III deficiency. There were key findings which included
(a) A developmental onset
(b) Involvement of the Cerebellum
(c) Involvement of the Basal Ganglia

(d) Rapid progression of the neurological manifestations

Although APOE4 might bind to mitochondrial complex III it is unclear whether this could lead to pathological causes via reduced function. There are several possibilities
(a) The actions result from mitochondrial complex III deficiency but there is a distinction between young and late onset of this deficiency
(b) The actions result from mitochondrial complex III deficiency but there is a distinction between this pathway and that caused by TTC19 defects
(c) The actions result from a combination of mitochondrial complex III deficiency and other aspects of APOE4 action

(d) Mitochondrial complex III deficiency does not play a significant role in the pathological effects of APOE4

From my perspective the paper above is more suggestive of a subcortical than cortical pathology.

 

Citations

Ardissone A, Granata T, Legati A, et al. Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature. JIMD Reports. 2015;22:115-120. doi:10.1007/8904_2015_419.

Dose J, Huebbe P, Nebel A, Rimbach G. APOE genotype and stress response – a mini review. Lipids in Health and Disease. 2016;15:121. doi:10.1186/s12944-016-0288-2.

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Disclaimer: The comments made here represent the opinions of the author and do not represent the profession or any body/organisation. The comments made here are not meant as a source of medical advice and those seeking medical advice are advised to consult with their own doctor. The author is not responsible for the contents of any external sites that are linked to in this blog.

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