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This research was funded by Fundacion Mutua Madrilena, Spain (XIII Call on Research Grants 2016), reference number AP163052016.

Analysis of institutional authors

Saiz JAuthorBarbas CAuthor

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September 29, 2024
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Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach

Publicated to:International Journal Of Molecular Sciences. 25 (17): 9754- - 2024-09-01 25(17), DOI: 10.3390/ijms25179754

Authors: Leno-Duran, Ester; Arrabal, Luisa; Roldan, Susana; Medina, Inmaculada; Alcantara-Dominguez, Clara; Garcia-Cabrera, Victor; Saiz, Jorge; Barbas, Coral; Sanchez, Maria Jose; Entrala-Bernal, Carmen; Fernandez-Rosado, Francisco; Lorente, Jose Antonio; Gutierrez-Rios, Purificacion; Martinez-Gonzalez, Luis Javier

Affiliations

Andalusian Reg Govt, Andalusian Hlth Serv, Jaen Sur Hlth Dist, Jaen 23009, Spain - Author
Andalusian Sch Publ Hlth EASP, Granada 18080, Spain - Author
CIBER Epidemiol & Publ Hlth CIBERESP, Madrid 28029, Spain - Author
Ciencias Salud Business Innovat Ctr BIC, Lorgen GP PT, Granada 18016, Spain - Author
Hosp Virgen Nieves, Pediat Neurol Dept, Granada 18014, Spain - Author
ibs GRANADA, Inst Invest Biosanit, Granada 18012, Spain - Author
Univ CEU San Pablo, Pharm Fac, Ctr Metabol & Bionanalysis CEMBIO, Chem & Biochem Dept, Madrid 28926, Spain - Author
Univ Granada, Fac Med PTS, Legal Med & Toxicol Dept, Lab Genet Identificat, Granada 18016, Spain - Author
Univ Granada, Fac Med, Dept Biochem, Mol Biol & Immunol 3, Granada 18016, Spain - Author
Univ Granada, Fac Med, Dept Obstet & Gynecol, Granada 18016, Spain - Author
Univ Granada, Pfizer, Andalusian Reg Govt, Ctr Genom & Oncol Res GENYO,PTS, Granada 18016, Spain - Author
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Abstract

This study aimed to elucidate the genetic causes underlying the juvenile parkinsonism (JP) diagnosed in a girl with several family members diagnosed with spinocerebellar ataxia type 2 (SCA2). To achieve this, whole-exome sequencing, analysis of CAG repeats, RNA sequencing analysis on fibroblasts, and metabolite identification were performed. As a result, a homozygous missense mutation SNP T>C (rs2254562) in synaptojamin 1 (SYNJ1), which has been implicated in the regulation of membrane trafficking in the synaptic vesicles, was identified. Additionally, we observed overexpression of L1 cell adhesion molecule (L1CAM), Cdc37, GPX1, and GPX4 and lower expression of ceruloplasmin in the patient compared to the control. We also found changes in sphingolipid, inositol, and inositol phosphate metabolism. These findings help to clarify the mechanisms of JP and suggest that the etiology of JP in the patient may be multifactorial. This is the first report of the rs2254562 mutation in the SYNJ gene identified in a JP patient with seizures and cognitive impairment.

Keywords

ChildExome sequencingFemaleHumansJuvenile parkinsonismMetabolismMultiomicsMutation screeningMutation, missenseNerve tissue proteinsParkinsonian disordersPedigreePolymorphism, single nucleotideSynj1Whole-exome sequencing

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal International Journal Of Molecular Sciences due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2024 there are still no calculated indicators, but in 2023, it was in position 68/231, thus managing to position itself as a Q1 (Primer Cuartil), in the category Chemistry, Multidisciplinary.

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-07-17:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 11.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 11 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 4.45.
  • The number of mentions on the social network Facebook: 1 (Altmetric).
  • The number of mentions on the social network X (formerly Twitter): 7 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Granada.