PhD Scientific Days 2022

Neurosciences I. (Poster discussion will take place in the Aula during the Coffee Break)

The importance of the mtDNA 13513 G>A mutation - a case study of five patients from Hungary

Előadó neve

Dr. Várhegyi, Vera

Előadó munkahelye

Semmelweis University, Institute of Genomic Medicine and Rare Disorders / Semmelweis University, Department of Obstetrics and Gynecology

Előadó telefonszáma

+36206663493

Előadó e-mail címe

varhegyi.vera@med.semmelweis-univ.hu

Az előadás címe

The importance of the mtDNA 13513 G>A mutation - a case study of five patients from Hungary

Szerző(k) neve és munkahelye

Vera Várhegyi1, Fruzsina Szabó1, Zoltán Grosz1, Viktor Molnár1, Noémi Ágnes Varga1, Petra
Zsidegh2, Ágnes Herczegfalvi3, Viktória Szabó4, Anita Maász5, Judit Bene5, Kinga Hadzsiev5,
Anikó Gál1, Mária Judit Molnár1

1 Semmelweis University, Institute of Genomic Medicine and Rare Disorders, Budapest
2 Semmelweis University, 1st Department of Pediatrics, Budapest
3 Semmelweis University, 2nd Department of Pediatrics, Budapest
4Semmelweis University, Department of Ophthalmology, Budapest
5University of Pécs, Department of Medical Genetics, Pécs

Bemutatás módja

Poszter

Szekció

Neurosciences I. (Poster discussion will take place in the Aula during the Coffee Break)

Language of the presentation

Hungarian

Preferred session

Neurosciences

Összefoglaló szövege

Introduction: Mitochondrial DNA's pathogenic mutations can manifest in a group of quite complex disorders called primary mitochondrial diseases, with multisystemic involvement. The m.13513 G>A (p.D355N) mutation in the MT-ND5 gene is associated with different clinical outcome and can manifest as Leigh syndrome, MELAS, and MELAS/LHON overlap syndrome.

Aims: In our study, we analyzed how specifically frequent this mtDNA mutation is in the Hungarian population.

Method: We examined 537 patients for the m.13513 G>A mutation by bidirectional
sequencing (also called the Sanger method). 390 DNA isolations were performed from blood sample and 147 from postmitotic tissue sample (muscle, urinary squamous cell).

Results: We could detect the mtDNA G13513A mutation in five cases from the 537 patients. The heteroplasmy ratio turned out to be between 50 and 95%. The clinical symptoms of the 5 examined patient who carries this alteration, showed a broad spectrum of
phenotypes such as Leigh syndrome, ataxia, strabismus, neuropathy, visual impairment, and renal failure. In four cases, the disease was associated with early onset Leigh syndrome, while in one patient, clinical symptoms manifested in adulthood with multisystemic involvement, with severe visual and renal impairment and hypoacusis.

Conclusion: Approximately 1% of the total investigated cohort carried the m.13513 G>A mtDNA mutation. Interestingly, among the postmitotic tissues samples, this proportion was significantly higher (2.88%). As a consequence, a more comprehensive study of the m.13513 G>A mutation is important to perform not only from blood sample but also from postmitotic tissue as well.

Funding: Hungarian Brain Research Program, NKFIH_FK_132812, NKFIH_139010, Semmelweis University, Startup grants, János Bolyai Research Scholarship, UNKP-21-5 Research Scholarship

University and Doctoral School

Semmelweis University, János Szentágothai Doctoral School of Neurosciences

Supervisor

Dr. Anikó Gál

Publication of my abstract

I give consent to the publication of my abstract on the website of the congress.

Kind

Szabad

Status

elfogadva

Accepted presentation method

poszter

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

6907

Start

12:55

End

13:00

Authors (legacy)

Vera Várhegyi1, Fruzsina Szabó1, Zoltán Grosz1, Viktor Molnár1, Noémi Ágnes Varga1, Petra
Zsidegh2, Ágnes Herczegfalvi3, Viktória Szabó4, Anita Maász5, Judit Bene5, Kinga Hadzsiev5,
Anikó Gál1, Mária Judit Molnár1

1 Semmelweis University, Institute of Genomic Medicine and Rare Disorders, Budapest
2 Semmelweis University, 1st Department of Pediatrics, Budapest
3 Semmelweis University, 2nd Department of Pediatrics, Budapest
4Semmelweis University, Department of Ophthalmology, Budapest
5University of Pécs, Department of Medical Genetics, Pécs