Defects of respiratory chain complex III (CIII) result in characteristic but rare mitochondrial disorders associated with distinct neuroradiological findings. The underlying molecular defects affecting mitochondrial CIII assembly factors are few and yet to be identified. LYRM7 assembly factor is required for proper CIII assembly where it acts as a chaperone for the Rieske iron-sulfur (UQCRFS1) protein in the mitochondrial matrix and stabilizing it. We present here the seventeenth individual with LYRM7-associated mitochondrial leukoencephalopathy harboring a previously reported rare pathogenic homozygous LYRM 7 variant, c.2T>C, (p.Met1?). Like previously reported individuals, our 5-year-old male proband presented with recurrent metabolic and lactic acidosis, encephalopathy, and fatigue. Further, he has additional, previously unreported features, including an acute stroke like episode with bilateral central blindness and optic neuropathy, recurrent hyperglycemia and hypertension associated with metabolic crisis. However, he has no signs of psychomotor regression. He has been stable clinically with residual left-sided reduced visual acuity and amblyopia, and no more metabolic crises for 2-year-period while on the mitochondrial cocktail. Although the reported brain MRI findings in other affected individuals are homogenous, it is slightly different in our index, revealing evidence of bilateral almost symmetric multifocal periventricular T2 hyperintensities with hyperintensities of the optic nerves, optic chiasm, and corona radiata but with no cavitation or cystic changes. This report describes new clinical and radiological findings of LYRM7-associated disease. The report also summarizes the clinical and molecular data of previously reported individuals describing the full phenotypic spectrum.
Matched MeSH terms: Electron Transport Complex III
Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital cardiomyopathy, which is
characterized by hypertrabeculations and deep recesses of the left ventricle. A patient could be
asymptomatic or presented with common manifestations, including reduced systolic function, arrhythmia,
thromboembolic events and heart failure. The rarity of the condition as well as lack of proper assessment
has probably led to this condition to be largely underdiagnosed or unrecognized. A 23-year-old lady had
collapsed at home thirty one days after delivering her first child. She had a history of goitre diagnosed a
year ago and noted to be fairly well throughout the pregnancy. Post mortem findings showed increased
trabeculations of the left ventricle. Further history was obtained after the procedure, revealing symptoms
such as syncopal attacks and bilateral lower limb weakness dated back as far as five years prior to her
sudden demise. These features were in keeping with hypotension hypoperfusion effects resulted from
reduced systolic function and decreased ejection fraction, as a result of left ventricular dysfunction. While
LVNC remains a rare type of disease, we would like to highlight the importance of a good anamnesis. It may
help to uncover some uncommon pathology such as this heart disease, thus warranting an appropriate
cardiac imaging to be engaged to clinch the primary diagnosis.
Matched MeSH terms: Electron Transport Complex III
Nipah virus (NiV), a recently discovered zoonotic virus infects and replicates in several human cell types. Its replication in human neuronal cells, however, is less efficient in comparison to other fully susceptible cells. In the present study, the SK-N-MC human neuronal cell protein response to NiV infection is examined using proteomic approaches.
Matched MeSH terms: Electron Transport Complex III/metabolism