PXD026182

PXD026182 is an original dataset announced via ProteomeXchange.

Title	Muscular and molecular pathology associated with SPATA5-deficiency in a child with EHLMRS
Description	Mutations in the SPATA5-gene are associated with the Epilepsy, Hearing Loss and Mental Retardation Syndrome (EHLMRS). While SPATA5 is ubiquitously expressed and is attributed a role in mitochondrial morphogenesis during spermatogenesis, there is only limited knowledge on the associated muscular and molecular pathology. We report on a case of EHLMRS in an 8-year-old girl with typical clinical presentation, where exome analysis revealed two clinically relevant, compound-heterozygous variants in SPATA5 and a comprehensive workup of muscular pathology was performed including proteomic profiling and microscopic studies. Proteomic profiling of a quadriceps biopsy showed the dysregulation of 82 proteins, out of whom 15 are localized in the mitochondrion, while 19 are associated to diseases presenting with phenotypical overlap to EHLMRS. Histological and immunofluorescence staining of our patient’s muscle biopsy confirmed mitochondrial pathology, while the examination of dysregulated proteins assessed vulnerability of the cell beyond the mitochondria. Through our study we provide insights into the molecular etiology of EHLMRS and provide further evidence for a muscle pathology associated with SPATA5-deficiency, including a pathological histochemical pattern accompanied by dysregulated protein expression.
HostingRepository	PRIDE
AnnounceDate	2022-02-17
AnnouncementXML	Submission_2022-02-17_04:06:11.877.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Andreas Hentschel
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	iodoacetamide derivatized residue
Instrument	Q Exactive

Revision	Datetime	Status	ChangeLog Entry
0	2021-05-21 03:50:53	ID requested
⏵ 1	2022-02-17 04:06:12	announced

Braun F, Hentschel A, Sickmann A, Marteau T, Hertel S, F, ö, rster F, Prokisch H, Wagner M, Wortmann S, Della Marina A, K, ö, lbel H, Roos A, Schara-Schmidt U, Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS. Int J Mol Sci, 22(15):(2021) [pubmed]

submitter keyword: EHLMRS

SPATA5

mitochondrial disorder

muscle proteomics

myopathology

Andreas Hentschel
contact affiliation	Translational Analytics, Bioanalytics, Leibniz-Institut für Analytische Wissenschaften e.V., Germany
contact email	andreas.hentschel@isas.de
lab head
Andreas Hentschel
contact affiliation	Leibniz Institut für Analytische Wissenschaften
contact email	andreas.hentschel@isas.de
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD026182
     1. Label: PRIDE project
     2. Name: Muscular and molecular pathology associated with SPATA5-deficiency in a child with EHLMRS