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^*

^*Corresponding author for this work

University of Kiel

1 Citation (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.

Original language	English
Journal	Parkinsonism and Related Disorders
Volume	54
Pages (from-to)	116-118
Number of pages	3
ISSN	1353-8020
DOIs	https://doi.org/10.1016/j.parkreldis.2018.04.001
Publication status	Published - 01.09.2018

Funding

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

Research Areas and Centers

Research Area: Medical Genetics

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.parkreldis.2018.04.001

Cite this

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",

language = "English",

volume = "54",

pages = "116--118",

journal = "Parkinsonism and Related Disorders",

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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, vol. 54, pp. 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, Vol. 54, 01.09.2018, p. 116-118.

Research output: Journal Articles › Letters › peer-review

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 -

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

Abstract

Funding

Research Areas and Centers

UN SDGs

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