SoylentNews

An Anonymous Coward writes:

--- --- --- --- Entire Story Below - Must Be Edited --- --- --- --- --- --- ---

Arthur T Knackerbracket has processed the following story [the-scientist.com]:

Clare Watson is an Australian freelance science journalist with a background in biomedical science who traded her pipettes for a pen after a series of close encounters with an astronomer, a turtle conservation project, and an MRI machine.

Geneticists Emma Baple [exeter.ac.uk] and Andrew Crosby [exeter.ac.uk] previously discovered mutations in more than 15 genes that cause hereditary spastic paraplegia (HSP)—a group of rare inherited disorders characterized by leg muscle weakness and stiffness. Recently, the University of Exeter duo identified new variants in yet another gene called TMEM63C in seven patients from three affected families. 

Nobody knew what the TMEM63C protein did inside cells, but the researchers had a hunch. Their previous work suggested [doi.org] that cellular pathways involved in processing fat molecules may be a common factor underlying HSP and related motor neuron diseases. “Lo and behold,” says Baple, the TMEM63C protein was located “exactly where we’d expect to find it if it was involved in those lipid metabolism processes”: in the endoplasmic reticulum (ER), the cellular hub for protein packaging, as well as at sockets where the ER joins with mitochondria to exchange lipids. Both organelles became misshapen in cells engineered to lack TMEM63C, which also suggests that the protein helps shape organelle morphology. 

The next step, Baple adds, is to confirm if, and how, the protein is involved in lipid processing, and if cells from people with HSP are deficient in the protein. In the meantime, identifying these gene variants “brings immediate diagnostic benefits” to affected families, Crosby tells The Scientist. 

Journal Reference:
New Gene Mutants Identified in Rare Motor Neuron Diseases, (DOI: https://www.the-scientist.com/the-literature/new-gene-mutants-identified-in-rare-motor-neuron-diseases-70514 [doi.org])

Original Submission