A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members

Marija Dulovic; Eva Schäffer; Frank Leypoldt; Alexander Balck; Susen Schaake; Frauke Hinrichs; Henriette Kirchner; Norbert Brüggemann; Daniela Berg; Katja Lohmann

doi:10.1016/j.parkreldis.2018.04.001

A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members

Marija Dulovic, Eva Schäffer, Frank Leypoldt, Alexander Balck, Susen Schaake, Frauke Hinrichs, Henriette Kirchner, Norbert Brüggemann, Daniela Berg, Katja Lohmann^*

^*Korrespondierende/r Autor/-in für diese Arbeit

Christian-Albrechts Universität zu Kiel

1 Zitat (Scopus)

Abstract

Many genetic disorders are clinically heterogeneous [1] and thus may be challenging to be diagnosed solely based on the clinical examination. In addition, if two or more genetic disorders are present in the same patient, the phenotypic presentation will be an additive result of both underlying disorders [2]. The scenario gets even more complicated when mitochondrial DNA (mtDNA) mutations play a role, since mtDNA represents high-copy-number, extra-nuclear genetic material exclusively transmitted through the mother.

Originalsprache	Englisch
Zeitschrift	Parkinsonism and Related Disorders
Jahrgang	54
Seiten (von - bis)	116-118
Seitenumfang	3
ISSN	1353-8020
DOIs	https://doi.org/10.1016/j.parkreldis.2018.04.001
Publikationsstatus	Veröffentlicht - 01.09.2018

Fördermittel

This study was supported by the German Research Foundation (FOR2488). This study was supported by the German Research Foundation ( FOR2488 ).

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen
SDG 10 – Weniger Ungleichheiten

Strategische Forschungsbereiche und Zentren

Querschnittsbereich: Medizinische Genetik

Dokumente

10.1016/j.parkreldis.2018.04.001

Weitere Links

Link to publication in Scopus

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Dulovic, M., Schäffer, E., Leypoldt, F., Balck, A., Schaake, S., Hinrichs, F., Kirchner, H., Brüggemann, N., Berg, D., & Lohmann, K. (2018). A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members. Parkinsonism and Related Disorders, 54, 116-118. https://doi.org/10.1016/j.parkreldis.2018.04.001

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title = "A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members",

abstract = "Many genetic disorders are clinically heterogeneous [1] and thus may be challenging to be diagnosed solely based on the clinical examination. In addition, if two or more genetic disorders are present in the same patient, the phenotypic presentation will be an additive result of both underlying disorders [2]. The scenario gets even more complicated when mitochondrial DNA (mtDNA) mutations play a role, since mtDNA represents high-copy-number, extra-nuclear genetic material exclusively transmitted through the mother. ",

author = "Marija Dulovic and Eva Sch{\"a}ffer and Frank Leypoldt and Alexander Balck and Susen Schaake and Frauke Hinrichs and Henriette Kirchner and Norbert Br{\"u}ggemann and Daniela Berg and Katja Lohmann",

year = "2018",

month = sep,

day = "1",

doi = "10.1016/j.parkreldis.2018.04.001",

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Dulovic, M, Schäffer, E, Leypoldt, F, Balck, A, Schaake, S, Hinrichs, F, Kirchner, H , Brüggemann, N, Berg, D & Lohmann, K 2018, 'A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members', Parkinsonism and Related Disorders, Jg. 54, S. 116-118. https://doi.org/10.1016/j.parkreldis.2018.04.001

A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members. / Dulovic, Marija; Schäffer, Eva; Leypoldt, Frank et al.
in: Parkinsonism and Related Disorders, Jahrgang 54, 01.09.2018, S. 116-118.

Publikation: Beiträge in Fachzeitschriften › Briefe › Begutachtung

TY - JOUR

T1 - A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members

AU - Dulovic, Marija

AU - Schäffer, Eva

AU - Leypoldt, Frank

AU - Balck, Alexander

AU - Schaake, Susen

AU - Hinrichs, Frauke

AU - Kirchner, Henriette

AU - Brüggemann, Norbert

AU - Berg, Daniela

AU - Lohmann, Katja

PY - 2018/9/1

Y1 - 2018/9/1

N2 - Many genetic disorders are clinically heterogeneous [1] and thus may be challenging to be diagnosed solely based on the clinical examination. In addition, if two or more genetic disorders are present in the same patient, the phenotypic presentation will be an additive result of both underlying disorders [2]. The scenario gets even more complicated when mitochondrial DNA (mtDNA) mutations play a role, since mtDNA represents high-copy-number, extra-nuclear genetic material exclusively transmitted through the mother.

AB - Many genetic disorders are clinically heterogeneous [1] and thus may be challenging to be diagnosed solely based on the clinical examination. In addition, if two or more genetic disorders are present in the same patient, the phenotypic presentation will be an additive result of both underlying disorders [2]. The scenario gets even more complicated when mitochondrial DNA (mtDNA) mutations play a role, since mtDNA represents high-copy-number, extra-nuclear genetic material exclusively transmitted through the mother.

UR - https://www.scopus.com/pages/publications/85053778364

U2 - 10.1016/j.parkreldis.2018.04.001

DO - 10.1016/j.parkreldis.2018.04.001

M3 - Letters

C2 - 29650490

AN - SCOPUS:85053778364

SN - 1353-8020

VL - 54

SP - 116

EP - 118

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

ER -