Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis

Mazhor Aldosary; Maha  Al-Otaibi; Fatima  Al-Fadhli; Namik Kaya; Raashda  Sulaiman; Mohammed Al-Owain

doi:10.24911/JBCGenetics/183-1543238438

2024, Vol: 7, Issue: 1

7 / 1Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles

Required files to be uploaded

Title Page

« Previous Article

Case Report
Online Published: 01 Jan 2019

JBCGenetics. 2019; 2(1): 81-84

doi: 10.24911/JBCGenetics/183-1543238438

Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis

Mazhor Aldosary, Maha Al-Otaibi, Fatima Al-Fadhli , Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain.

Abstract
Background: Hemophagocytic lymphohistiocytosis (HLH) is a hyper-inflammatory condition resulting from altered crosstalk between innate and adaptive immune responses. Familial HLH is caused by mutations in several genes whereas the acquired form is associated with infections, rheumatic diseases, malignancies, and inherited metabolic disorders.

Case Presentation: We report an infant boy who developed HLH and the potential involvement of mitochondrial DNA in pathogenicity. This patient was with evidence of mitochondrial disease based on neonatal-onset lactic acidosis, elevated lactate in cerebrospinal fluid, a significant lactate peak on magnetic resonance spectroscopy, and generalized reduction of multiple respiratory chain enzyme complex activities. In addition, full mitochondrial genome sequencing only revealed the identification of the homoplasmic m.4325A>G mutation. Subsequently, he presented with a febrile illness complicated by HLH.

Conclusion: Elevated levels of lactic acidosis and mitochondrial dysfunction strengthen the involvement of mitochondria in causing secondary HLH in our patient.

Key words: Hemophagocytic lymphohistiocytosis, mitochondrial dysfunction, inherited metabolic.

	ARTICLE TOOLS
	Abstract
	PDF Fulltext
	How to cite this article
	Citation Tools
	Related Records
	Articles by Mazhor Aldosary Articles by Maha Al-Otaibi Articles by Fatima Al-Fadhli Articles by Namik Kaya Articles by Raashda Sulaiman Articles by Mohammed Al-Owain
	on Google
	on Google Scholar

How to Cite this Article

Pubmed Style

Aldosary M, Al-Otaibi M, FA, Kaya N, Sulaiman R, Al-Owain M, . Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. JBCGenetics. 2019; 2(1): 81-84. doi:10.24911/JBCGenetics/183-1543238438

Web Style

Aldosary M, Al-Otaibi M, FA, Kaya N, Sulaiman R, Al-Owain M, . Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. https://www.jbcgenetics.com/?mno=18963 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1543238438

AMA (American Medical Association) Style

Aldosary M, Al-Otaibi M, FA, Kaya N, Sulaiman R, Al-Owain M, . Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. JBCGenetics. 2019; 2(1): 81-84. doi:10.24911/JBCGenetics/183-1543238438

Vancouver/ICMJE Style

Aldosary M, Al-Otaibi M, FA, Kaya N, Sulaiman R, Al-Owain M, . Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. JBCGenetics. (2019), [cited November 14, 2024]; 2(1): 81-84. doi:10.24911/JBCGenetics/183-1543238438

Harvard Style

Aldosary, M., Al-Otaibi, . M., , . F. A., Kaya, . N., Sulaiman, . R., Al-Owain, . M. & (2019) Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. JBCGenetics, 2 (1), 81-84. doi:10.24911/JBCGenetics/183-1543238438

Turabian Style

Aldosary, Mazhor, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain, and . 2019. Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. Journal of Biochemical and Clinical Genetics, 2 (1), 81-84. doi:10.24911/JBCGenetics/183-1543238438

Chicago Style

Aldosary, Mazhor, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain, and . "Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis." Journal of Biochemical and Clinical Genetics 2 (2019), 81-84. doi:10.24911/JBCGenetics/183-1543238438

MLA (The Modern Language Association) Style

Aldosary, Mazhor, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain, and . "Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis." Journal of Biochemical and Clinical Genetics 2.1 (2019), 81-84. Print. doi:10.24911/JBCGenetics/183-1543238438

APA (American Psychological Association) Style

Aldosary, M., Al-Otaibi, . M., , . F. A., Kaya, . N., Sulaiman, . R., Al-Owain, . M. & (2019) Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. Journal of Biochemical and Clinical Genetics, 2 (1), 81-84. doi:10.24911/JBCGenetics/183-1543238438

Most Viewed Articles

Most Accessed Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389

The role of C-terminal tensin-like (Cten) gene in cancer metastasis
Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
JBCGenetics. 2018; 1(1): 2-9
» Abstract » doi: 10.24911/JBCGenetics/183-1531548689

Clinical reassessment of post-laboratory variant call format (VCF) files
Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
JBCGenetics. 2018; 1(1): 31-36
» Abstract » doi: 10.24911/JBCGenetics/183-1529928114

Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
JBCGenetics. 2018; 1(1): 37-39
» Abstract » doi: 10.24911/JBCGenetics/183-1530040885

Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
JBCGenetics. 2018; 1(1): 40-42
» Abstract » doi: 10.24911/JBCGenetics/183-1531469195

Most Downloaded

Top Downloaded Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389

Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
JBCGenetics. 2019; 2(1): 28-39
» Abstract » doi: 10.24911/JBCGenetics/183-1542047633

Syndactyly genes and classification: a mini review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
JBCGenetics. 2018; 1(1): 10-18
» Abstract » doi: 10.24911/JBCGenetics/183-1532177257

Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
JBCGenetics. 2021; 4(1): 27-34
» Abstract » doi: 10.24911/JBCGenetics/183-1601264923

Most Cited Articles

Most Cited Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389
Cited : 4 times [Click to see citing articles]

Genomics in Saudi Arabia Call for Data-Sharing Policy
Ahmed Alfares,
JBCGenetics. 2018; 1(2): 51-52
» Abstract » doi: 10.24911/JBCGenetics/183-1546945268
Cited : 4 times [Click to see citing articles]

Harel-Yoon syndrome: the first case report from Saudi Arabia
Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
JBCGenetics. 2020; 3(1): 22-27
» Abstract » doi: 10.24911/JBCGenetics/183-1585816398
Cited : 2 times [Click to see citing articles]

About Journal of Biochemical and Clinical Genetics

The Journal of Biochemical and Clinical Genetics (JBCGenetics) is a peer-reviewed, open access medical journal. Owner: Saudi Society of Medical ... Read more.

For best results, please use Internet Explorer or Google Chrome.

Contact Information

Title Owner: Saudi Society of Medical Genetics

https://ssmg.org.sa/en

Society Email: info@ssmg.org.sa

Editor in Chief: dralfadhelm@jbcgenetics.com

Contact the publisher:

contact@discoverpublish.com
https://discoverpublish.com/

Publisher: Discover STM Publishing Ltd,

82 Leslie's Arch, Old Quarter, Ballincollig, Cork, P31 RY62, Ireland.

Hours: M-F: 8:30am - 5:30pm

Contact Emails:

Journal Editorial Office: contact@jbcgenetics.com

Billing Support: contact@discoverpublish.com

Technical Support:
anastasiia.pavlenco@sofiafields.com
https://sofiafields.com/

POLICIES & JOURNAL LINKS

About Journal of Biochemical and Clinical Genetics

Contact Information

How to cite this article