This month’s highlighted publication in The Lancet Neurology, led by Dr Robert Harkness and Prof Bill Newman from The University of Manchester discovered that changes in gene RCC1 leads to severe nerve damage in children following a mild bout of infection.
The researchers performed laboratory studies on skin cells taken from patients and in specially genetically engineered fruit flies to show that the damage to nerves can be caused by certain chemicals. Skin cells from patients when looked at under special microscopes have changes very similar to those seen in the cells of patients with motor neuron disease where muscles, including those controlling breathing and swallowing, become weak.
Prof Bill Newman commented that “Until this study, little was known about why some people experience severe nerve damage after they have had a mild infection like flu or a stomach upset. This work provides families with an explanation and is the first step in us developing an effective treatment. As children are well before they develop nerve damage following an infection, this gives us an opportunity to treat at risk children before problems occur. The similarity with Guillain-Barré syndrome and with conditions like motor neuron disease may help us understand these more common conditions and why some people are at greater risk and what treatments may be effective.”
This research has attracted recognition from The BBC and other national newspapers including The Independent and The London Evening Standard.
Reference:
Harkness JR, McDermott JH, Marsden S, Jamieson P, Metcalfe KA, Khan N, Macken WL, Pitceathly RDS, Record CJ, Maroofian R, Kleopa K, Christodoulou K, Sabir A, Islam L, Santra S, Durmusalioglu EA, Atik T, Isik E, Cogulu O, Urquhart JE, Beaman GM, Demain LA, Jackson A, Blakes AJM, Byers HJ, Bennett H, Lin WH, Adamson A, Patel S, Yue WW, Taylor RW, Reunert J, Marquardt T, Buchert R, Haack T, Losch H, Ryba L, Lassuthova P, Valkovičová R, Haberlová J, Lauerová B, Trúsiková E, Polavarapu K, Kilicarslan OA, Lochmüller H, Zamani M, Chamanrou N, Shariati G, Sadeghian S, Azizimalamiri R, Maddirevula S, AlMuhaizea M, Alkuraya FS, Horvath R, Gungor S, Manzur A, Munot P, Matthews R, Banka S, Reilly MM, Bennett D, O’Keefe RT, Newman WG. Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series. Lancet Neurol. 2025 Aug;24(8):667-680. doi: 10.1016/S1474-4422(25)00198-X. PMID: 40683276.
The research study was funded by the National Institute for Health and Care Research (NIHR), LifeArc and the Wellcome Trust.
