About

Iron-sulfur protein NUBPL (IND1) also known as nucleotide-binding protein-like (NUBPL) is an iron-sulfur (Fe/S) protein that, in humans, is encoded by the NUBPL gene, located on chromosome 14q12. Mutations in the NUBPL gene may cause a rare form of mitochondrial complex I disorder.

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Clinical Features:

  • Age of onse:t 1-2 years old
  • Developmental delay: Some patients 
  • Delay: Motor; Unable to walk
  • Speech: Abnormal (Dysarthria)
  • Eyes: Strabismus; Nystagmus
  • Ataxia: Trunk & Limbs
  • Contractures
  • Spasticity
  • Cognitive: Normal or Reduced
  • Myopathy
  • Other organs: Normal
  • Course: Progressive, continuous or episodic

Laboratory Signs:

  • MRI: Leukoencephalopathy with abnormal:
    ° Cerebellar cortex: Progressive
    ° Cerebral white matter, deep: May resolve
    ° Corpus callosum: May resolve
    (Please note that although these are characteristic MRI findings, there are others including abnormalities in the grey matter of the cerebellum, as is discussed in the blog, Hope for Katherine Belle.)
  • Lactate: Serum normal or high; CSF normal or high
  • NUBPL protein: Reduced
  • Muscle biopsy
    ° Histology: Ragged red fibers; No COX- fibers
    ° Biochemistry: Complex I deficiency

*Please click on the following Abstract for additional clinical findings as presented by Dr. Virginia Kimonis at The 66th Annual Meeting of The American Society of Human Genetics, October 2016, Vancouver, Canada: kimonis_kimonis_nubpl_34x51_0_rgb_mod


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