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Abstract

Review Article

Differential diagnosis of POLG related disorders: What to keep in mind when multiorgan system is involved?

Rajib Dutta*

Published: 09 June, 2021 | Volume 5 - Issue 1 | Pages: 048-054

Mitochondrial and lysosomal dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) leading to deficient energy production and defects in phagocytosis in endosomal-lysosomal pathway respectively. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the mitochondrial or the nuclear genome, or in the cross-talk between the two. The mitochondrial DNA depletion syndromes (MDSs) are a clinically heterogeneous group of disorders with an autosomal recessive pattern of inheritance that have onset in infancy or early childhood and are characterized by a reduced number of copies of mtDNA in affected tissues and organs. In this review article, we summarized the spectrum of mtDNA depletion disorders along with minor learning of lysosomal storage diseases. This current article offers a perspective on the role of genetics in medical practice and how this role may evolve over the next several years.

Read Full Article HTML DOI: 10.29328/journal.jnnd.1001050 Cite this Article Read Full Article PDF

Keywords:

Mitochondria; lysosome; mtDNA; Metabolic; mtDNA depletion

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Publishing an article is a long process, but working with your publication department made things go smoothly, even though the process took exactly 5 months from the time of submitting the article till the time I have favourable response, the missing part is the peer review details, which is essential in self auditing and future improvement, overall experience was excellent giving your understanding of the situation of lack of financial institution support.

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I really liked the ease of submitting my manuscript in the HSPI journal. Further, the peer review was timely completed and I was communicated the final decision on my manuscript within 10 days of submission which is really appreciable. I strongly recommend all the scientists and researchers to submit their work in this journal”

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Abiodun Akanbi Adeogun

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University of Agriculture, Pakistan

Muhammad Sarwar Khan

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University of Jacqmar, Inc., USA

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I am to express my view that Heighten Science Publications are reliable quick even after peer review process. I hope and wish the publications will go a long way in disseminating science to many interested in scientific research.

College of Fisheries, CAU(I), Tripura, India

Ajit Kumar Roy

The Journal Clinical Nephrology provides a good opportunity for readers to stay updated in the field of clinical nephrology. Additionally - it provides a good opportunity for authors to publish their work. 1. Publication of the accepted manuscripts is sufficiently rapid. 2. The trust factor between the journal and me, as an author, is very important and well preserved. 3. Peer review process very rapid and effective.

Assaf Harofeh Medical Center, Israel

Leonid Feldman

In 2017, I submitted a manuscript to the journal Archives of Biotechnology and Biomedicine belonging to Heighten Science Publications Corporation. Within one week I already received the response from the editor. All processing steps were really fast so in terms of a speedy publication I can particularly recommend the journal Archives of Biotechnology and Biomedicine. The responsible contact person of the journal was always available, which gives a trustworthy impression to the author. Also the peer review process was clear and constructive. So from my experience with Heighten Science Publications Corporation I can recommend publishing there.

University of Tubingen, Germany

Yvonne Mast

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The services of the journal were excellent. The most important thing for an author is the speed of the peer review which was really fast here. They returned in a few days and immediately replied all of my questions. I want to refer this platform to all scholars. Many thanks.

Eastern Mediterranean University, Cyprus

Zehra Guchan TOPCU

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USA

Igor Klepikov

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Russia

Victor V Apollonov

The editorial process was quickly done. The galley proof was sent within a week after being accepted for publication. The editorial team was very helpful and responded promptly.

India

Rohit Kulshrestha

Publishing with the International Journal of Clinical and Experimental Ophthalmology was a rewarding experience as review process was thorough and brisk. Their visibility online is second to none as their published articles appear in all search engines. I will encourage researchers to publish with them.

University of Port Harcourt Teaching Hospital, Nigeria

Dr. Elizabeth A Awoyesuku

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NC A&T State University, USA

Moran Sciamama-Saghiv

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Ekiti State University Teaching Hospital, Nigeria

Ayokunle Dada

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Ido-Ekiti/Afe Babalola University, Nigeria

Dr. Shuaib Kayode Aremu

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Ekiti State University, Nigeria

Adebukola Ajite

I wanna to thank clinical journal of nursing care and practice for its effort to review and publish my manuscript. This is reputable journal. Thank you!

Wollo University, Ethiopia

Atsedemariam Andualem

We appreciate your approach to scholars and will encourage you to collaborate with your organization, which includes interesting and different medical journals. With the best wishes of success, creativity and joy in life, prosperity in the medical field.

Ivano- Frankivsk National Medical University, Ukraine

Nataliya Kitsera

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Diaverum: PADC, Jeddah, Saudi Arabia

Nasrulla Abutaleb

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Department of Biotechnology, Uttaranchal college of Applied and Life Sciences, Uttaranchal University, Dehradun, Uttarakhand, India

Archna Dhasmana

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Helen Figge

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Ph.D, Boston University Department of Communication Sciences and Disorders and Knowledge Research Institute, Inc., 2131 Reflection Bay Drive, Arlington, Texas 76013, USA

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Department of Neurosurgery, Queen Elizabeth Hospital, Hong Kong

Long Ching

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Palestine College of Nursing, Khan Younis, Gaza Strip, Palestine

Ayman M Abu Mustafa

“It was a delightful experience publishing my manuscript with the Clinical Journal of Obstetrics and Gynecology. They offered me lots of opportunities I never had from most publishing houses and their prompt services are greatly appreciated.”

Department of Agricultural Economics, Agribusiness and Extension, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana

Akowuah Jones Asafo

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