Hexbyte Glen Cove Scientists reveal the genetic basis of mitochondrial diseases

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Mutations in genes encoding mitochondrial aminoacyl-tRNA synthetases are linked to diverse diseases. However, the precise mechanisms by which these mutations affect mitochondrial function and disease development are not fully understood.

A joint team led by Dr. Ge Wanzhong from the Women’s Hospital, Zhejiang University School of Medicine, and Prof. Guan Min-Xin from the Institute of Genetics, Zhejiang University, published their collaborative research regarding the developmental delay and seizure manifested by aberrant mitochondrial tRNA metabolism in the journal Nucleic Acids Research on December 8.

In this study, the research team focused on FARS2 deficiency and illustrated how the aberrant mitochondrial tRNA metabolism can lead to developmental delay and seizure, two major clinical phenotypes associated with FARS2 .

The researchers generated Drosophila FARS2 knockout and knockdown models and performed a series of experiments to confirm the validity of the model for studying mitochondrial tRNA synthetases-related diseases. They found that FARS2 deficiency caused defects in mitochondrial tRNAPhe metabolism, translation, assembly and activity of oxidative phosphorylation system (OXPHOS) complexes. Moreover, the developmental delay and seizure observed in Drosophila FARS2 deficiency model accurately recapitulated many phenotypic features of human disease.

The team also produced humanized fly models by introducing human wild type FARS2, p.G309S and p.D142Y pathogenic variants into Drosophila FARS2 mutants, and analyzed the pathologic consequences of human disease-causing FARS2 p.G309S and p.D142Y mutations. These new findings suggest that proper control of mitochondrial tRNA is essential for mitochondrial function, revealing a novel genetic basis for mitochondrial .

“Our research discoveries will facilitate new understanding of pathogenesis of mitochondrial diseases and new therapies for treating seizures,” said Ge.



More information:
Wenlu Fan et al, FARS2 deficiency in Drosophila reveals the developmental delay and seizure manifested by aberrant mitochondrial tRNA metabolism, Nucleic Acids Research (2021). DOI: 10.1093/nar/gkab1187

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Scientists reveal the genetic basis of mitochondrial diseases (2022, January 3)
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Hexbyte Glen Cove Australia fights bushfires in west, floods in east

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After weeks of high temperatures, fires flanked the western tourist hotspot of Margaret River.

Australia battled twin natural disasters Friday, with bushfires cutting through a picturesque west coast region, while serious flooding and heavy rains lashed the country’s east.

After weeks of high temperatures, fires flanked the western tourist hotspot of Margaret River—famed for its fine wine and big surf.

No homes have been damaged or injuries reported, but flames have been seen over a wide area, sending smoke billowing high into the sky.

Emergency warnings are in effect, and some residents have been told to flee to safety or shelter in place.

“Act immediately to survive,” the state’s Department of Fire and Emergency Services said.

While Australia’s Indian Ocean coast has sizzled under temperatures that have reached 40 degrees Celsius (104 Fahrenheit), on the other side of the continent its Pacific Coast has been pummelled by rain for months.

“A low pressure centre has formed off the southern New South Wales coast bringing heavy rainfall and major flooding,” the Bureau of Meteorology said.

Some rural regions south of Sydney—engulfed in the country’s worst-ever bushfires exactly two years ago—have received 21 centimetres (eight inches) of rain in the last 24 hours alone.

November was the wettest in 122 years of records and among the coolest, as a La Nina weather phenomenon took hold.

Scientists believe Australia’s has been made worse by man-made .

In recent years the continent has experienced a litany of climate-worsened droughts, bushfires and floods.



© 2021 AFP

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Australia fights bushfires in west, floods in east (2021, December 10)
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