Universität zu Köln

Zilio, Eleonora ORCID: 0000-0003-4356-7675, Piano, Valentina ORCID: 0000-0002-9539-561X and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2022). Mitochondrial Dysfunction in Spinal Muscular Atrophy. Int. J. Mol. Sci., 23 (18). BASEL: MDPI. ISSN 1422-0067

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Abstract

Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder caused by recessive mutations in the SMN1 gene, globally affecting similar to 8-14 newborns per 100,000. The severity of the disease depends on the residual levels of functional survival of motor neuron protein, SMN. SMN is a ubiquitously expressed RNA binding protein involved in a plethora of cellular processes. In this review, we discuss the effects of SMN loss on mitochondrial functions in the neuronal and muscular systems that are the most affected in patients with spinal muscular atrophy. Our aim is to highlight how mitochondrial defects may contribute to disease progression and how restoring mitochondrial functionality may be a promising approach to develop new therapies. We also collected from previous studies a list of transcripts encoding mitochondrial proteins affected in various SMA models. Moreover, we speculate that in adulthood, when motor neurons require only very low SMN levels, the natural deterioration of mitochondria associated with aging may be a crucial triggering factor for adult spinal muscular atrophy, and this requires particular attention for therapeutic strategies.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Zilio, Eleonora UNSPECIFIED orcid.org/0000-0003-4356-7675 UNSPECIFIED Piano, Valentina UNSPECIFIED orcid.org/0000-0002-9539-561X UNSPECIFIED Wirth, Brunhilde UNSPECIFIED orcid.org/0000-0003-4051-5191 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-660884
DOI:	10.3390/ijms231810878
Journal or Publication Title:	Int. J. Mol. Sci.
Volume:	23
Number:	18
Date:	2022
Publisher:	MDPI
Place of Publication:	BASEL
ISSN:	1422-0067
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MOTOR-NEURON PROTEIN; SKELETAL-MUSCLE FIBERS; MOUSE MODEL; OXIDATIVE STRESS; MESSENGER-RNA; SMN PROTEIN; NEUROMUSCULAR-JUNCTIONS; GLUCOSE-METABOLISM; NEUROCALCIN-DELTA; LOCAL TRANSLATION Multiple languages Biochemistry & Molecular Biology; Chemistry, Multidisciplinary Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/66088