Contact details +64 (06) 356 9099  ext. 84729

Dr Anja Schiemann PhD

Research Officer

School of Fundamental Sciences

Professional

Qualifications

  • Doctor of Philosophy - Massey University (2004)

Prizes and Awards

  • The journal article “Functional Characterization of Two Known Ryanodine Receptor Mutations Causing Malignant Hyperthermia” has been selected by the A&A (Anesthesia & Analgesia) Editorial Board as the Article of the Month for February 2014. - (2014)

Research Expertise

Research Interests

  • Molecular Genetics of Malignant Hyperthermia
  • Functional analysis of RYR1 mutations

Thematics

Health and Well-being

Area of Expertise

Field of research codes
Biochemistry and Cell Biology (060100): Biological Sciences (060000): Genetics (060400):
Medical And Health Sciences (110000): Medical Biochemistry and Metabolomics (110100): Medical Biochemistry: Nucleic Acids (110105): Medical Biochemistry: Proteins and Peptides (incl. Medical Proteomics) (110106):
Receptors and Membrane Biology (060110)

Research Projects

Summary of Research Projects

Position Current Completed
Project Leader 1 6

Completed Projects

Project Title: Novel mutations causing Malignant Hyperthemia

Malignant Hyperthermia (MH) is an autosomal dominant disease associated with anaesthesia. It affects potentially 1 in 200 patients undergoing anaesthesia at Palmerston North Hospital. In 50-70% of cases mutations are found in the skeletal ryanodine receptor (RYR1) which is the major skeletal muscle calcium release channel. To date over 300 variants in RYR1 have been associated with MH, however only 31 have been identified as causative. In order to confirm a mutation in RYR1 to be causative, functional assays have to show abnormal calcium release compared to wild-type RYR1. We propose to functionally characterize recently identified novel mutations in RYR1 from New Zealand families using B-lymphoblastoid cell lines created from patient's blood as well as a recombinant system. We will use Next Generation Sequencing to identify mutations associated with MH in patients where no mutations have been identified so far.
Read Project Description Hide Project Description

Date Range: 2013 - 2013

Funding Body: Massey University

Project Team:

Research Outputs

Journal

Hudig, K., Pollock, N., Bulger, T., Machon, RG., Woodhead, A., Schiemann, AH., . . . Stowell, KM. (2019). Masseter muscle rigidity and the role of dna analysis to confirm malignant hyperthermia susceptibility. Anaesthesia and Intensive Care. 47(1), 60-68
[Journal article]Authored by: Schiemann, A., Stowell, K.
Schiemann, AH., Bjorksten, AR., Gillies, RL., Hockey, BM., Ball, C., Pollock, N., . . . Stowell, KM. (2018). A genetic mystery in malignant hyperthermia ‘solved’?. British Journal of Anaesthesia. 121(3), 681-682
[Journal article]Authored by: Schiemann, A.
Parker, R., Schiemann, AH., Langton, E., Bulger, T., Pollock, N., Bjorksten, A., . . . Stowell, KM. (2017). Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia. Journal of Neuromuscular Diseases. 4(2), 147-158
[Journal article]Authored by: Schiemann, A., Stowell, K.
Stephens, J., Schiemann, AH., Roesl, C., Miller, D., Massey, S., Pollock, N., . . . Stowell, K. (2016). Functional analysis of RYR1 variants linked to malignant hyperthermia. Temperature. 3(2), 328-339
[Journal article]Authored by: Schiemann, A., Stowell, K.
Schiemann, AH., & Stowell, KM. (2016). Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia. British Journal of Anaesthesia. 117(1), 124-128
[Journal article]Authored by: Schiemann, A., Stowell, K.
Rosenberg, H., Pollock, N., Schiemann, A., Bulger, T., & Stowell, K. (2015). Malignant hyperthermia: a review. Orphanet Journal of Rare Diseases. 10(1), 1-19
[Journal article]Authored by: Schiemann, A., Stowell, K.
Stowell, K., Langton, E., Pollock, N., & Schiemann, A. (2014). Targeted exon capture and NGS to investigate an undefined myopathy reveal variants.. BMC anesthesiology. 14(Suppl 1), A15-A15
[Journal article]Authored by: Schiemann, A.
Roesl, C., Sato, K., Schiemann, A., Pollock, N., & Stowell, KM. (2014). Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility. Cell Calcium. 56(3), 195-201
[Journal article]Authored by: Schiemann, A., Stowell, K.
Schiemann, AH., Paul, N., Parker, R., Pollock, N., Bulger, TF., & Stowell, KM. (2013). Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia. Anesthesia and Analgesia.
[Journal article]Authored by: Schiemann, A., Stowell, K.
Schiemann, AH., Dürholt, EM., Pollock, N., & Stowell, KM. (2013). Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia. British Journal of Anaesthesia. 110(1), 122-127
[Journal article]Authored by: Schiemann, A., Stowell, K.
Concha, C., Edman, RM., Belikoff, EJ., Schiemann, AH., Carey, B., & Scott, MJ. (2012). Organization and expression of the Australian sheep blowfly (Lucilia cuprina) hsp23, hsp24, hsp70 and hsp83 genes. Insect Molecular Biology.
[Journal article]Authored by: Schiemann, A.
Concha, C., Belikoff, EJ., Carey, BL., Li, F., Schiemann, AH., & Scott, MJ. (2011). Efficient germ-line transformation of the economically important pest species Lucilia cuprina and Lucilia sericata (Diptera, Calliphoridae). Insect Biochemistry and Molecular Biology. 41(1), 70-75
[Journal article]Authored by: Schiemann, A.
Scott, MJ., Atapattu, A., Schiemann, AH., Concha, C., Henry, R., Carey, BL., . . . Sarkar, A. (2011). Organisation and expression of a cluster of yolk protein genes in the Australian sheep blowfly, Lucilia cuprina. Genetica. 139(1), 63-70
[Journal article]Authored by: Schiemann, A.
Schiemann, AH., Weake, VM., Li, F., Laverty, C., Belikoff, EJ., & Scott, MJ. (2010). The importance of location and orientation of male specific lethal complex binding sites of differing affinities on reporter gene dosage compensation in Drosophila. Biochemical and Biophysical Research Communications. 402(4), 699-704
[Journal article]Authored by: Schiemann, A.
Schiemann, AH., Li, F., Weake, VM., Belikoff, EJ., Klemmer, KC., Moore, SA., . . . Scott, MJ. (2010). Sex-biased transcription enhancement by a 5' tethered Gal4-MOF histone acetyltransferase fusion protein in Drosophila. BMC Molecular Biology. 11
[Journal article]Authored by: Schiemann, A.
Li, F., Schiemann, AH., & Scott, MJ. (2008). Incorporation of the noncoding roX RNAs alters the chromatin-binding specificity of the Drosophila MSL1/MSL2 complex. Molecular and Cellular Biology. 28(4), 1252-1264
[Journal article]Authored by: Schiemann, A.
Schiemann, AH., Rakonjac, J., Callanan, M., Gordon, J., Polzin, K., Lubbers, MW., . . . O'Toole, PW. (2004). Essentiality of the early transcript in the replication origin of the lactococcal prolate phage c2. Journal of Bacteriology. 186(23), 8010-8017
[Journal article]Authored by: Rakonjac, J., Schiemann, A.
Rakonjac, J., Ward, LJH., Schiemann, AH., Gardner, PP., Lubbers, MW., & O'Toole, PW. (2003). Sequence diversity and functional conservation of the origin of replication in lactococcal prolate phages. Applied and Environmental Microbiology. 69(9), 5104-5114
[Journal article]Authored by: Rakonjac, J., Schiemann, A.

Thesis

Schiemann, AH. (2003). The role of transcription in lactococcal phage replication. (Doctoral Thesis, Massey University)
[Doctoral Thesis]Authored by: Schiemann, A.

Conference

Schiemann, AH. (2018, August). Functional characterisation of RYR1 variants using immortalized myoblasts. Presented at Palmerston North Medical Research Foundation Colloquium 2018
[Conference Oral Presentation]Authored by: Schiemann, A., Stowell, K.
Stephens, J., Stowell, KM., Schiemann, AH., & Sutherland-Smith, A. (2018). Characterisation of malignant hyperthermia associated RyR1 variants. Poster session presented at the meeting of Gage Muscle Conference, Canberra. Canberra, Australia
[Conference Poster]Authored by: Schiemann, A., Stowell, K., Sutherland-Smith, A.Contributed to by: Schiemann, A.
Schiemann, AH., Parker, R., & Stowell, KM. (2018, April). Identification and characterisation of variants associated with malignant hyperthermia in New Zealand families. Presented at Gage Conference Muscle 2018. Canberra, Australia.
[Conference Oral Presentation]Authored by: Schiemann, A., Stowell, K.
Schiemann, AH., & Stowell, K.M, . (2017, August). Malignant hyperthermia: Exploring RyR1 channel function in an inducible system. Presented at Palmerston North Medical Research Foundation 2017 Colloquium. Palmerston North, New Zealand.
[Conference Oral Presentation]Authored by: Schiemann, A.
Stowell, K., Schiemann, A., Bulger, T., Pollock, N., Bjorksten, A., & Gillies, R. (2017, May). A common RYR1 variant in linkage disequilibrium with a repeat element in DMPK associated with myotonic dystrophy. Presented at European Malignant Hyperthermia Group, 36th meeting. Antwerp, Belgium.
[Conference Oral Presentation]Authored by: Schiemann, A., Stowell, K.
Parker, Remai, ., White, Ruth, ., Massey, Sean, ., Stowell, Kathryn, ., Schiemann, AH., Bulger, Terasa, ., . . . Pollock, Neil, . (2017). Analysis of variants in New Zealand families with malignant hyperthermia. Poster session presented at the meeting of Gordon Research Conference. Muscle: Excitation-Contraction Coupling. Les Diablerets, Switzerland
[Conference Poster]Authored by: Schiemann, A.
Stowell, Kathryn, ., Schiemann, AH., Bulger, Terasa, ., Pollock, Neil, ., Bjorksten, Andrew, ., & Gillies, Robyn, . (2017). A relatively common RYR1 variant in linkage disequilibrium with a repeat element in DMPK associated with myotonic dystrophy in a New Zealand family susceptible to Malignant Hyperthermia. Poster session presented at the meeting of Gordon Research Conference. Muscle: Excitation-Contraction Coupling. Les Diablerets, Switzerland
[Conference Poster]Authored by: Schiemann, A.
Stowell, K, ., White, R, ., & Schiemann, AH. (2016). Searching for novel variants linked to malignant hyperthermia in a sea of SNPs. Poster session presented at the meeting of Lorne genome conference, Australia
[Conference Poster]Authored by: Schiemann, A.
Stowell, K, ., Schiemann, AH., & Parker, R, . (2015, June). Functional analysis of RYR1 variants. Presented at 34th European malignant hyperthermia group meeting. Lille, France.
[Conference Oral Presentation]Authored by: Schiemann, A.
Stowell, Kathryn, ., White, Ruth, ., Massey, Sean, ., Rhodes, Lili, ., Parker, Remai, ., & Schiemann, AH. (2015). Searching for novel variants linked to malignant hyperthermia in a sea of SNPs. Poster session presented at the meeting of Gordon Research Conference. Muscle: Excitation-contraction coupling. Newry, USA
[Conference Poster]Authored by: Schiemann, A.
Schiemann, AH. (2015, August). Functional analysis of mutations associated with malignant hyperthermia. Presented at Palmerston North Medical Research Foundation Colloquium. Palmerston North, New Zealand.
[Conference Oral Presentation]Authored by: Schiemann, A.
Parker,, RJ., Stowell, KM., Schiemann, AH., & Rhodes, L. (2015). Functional analysis of RyR1 transmembrane domain variants. Poster session presented at the meeting of Gordon Research Seminar (GRS) Muscle: Excitation-contraction coupling. United States of America
[Conference Poster]Authored by: Schiemann, A., Stowell, K.
Schiemann, AH., & Stowell, KM. (2015). Targeted DNA capture and NGS to identify mutations associated with malignant hyperthermia. Poster session presented at the meeting of Gordon Research Conference (GRC): Muscle: Excitation-Contraction Coupling. Newry, United States of America
[Conference Poster]Authored by: Schiemann, A., Stowell, K.
Stowell, KM., Langton, E., Pollock, N., & Schiemann, AH. (2014). Targeted exon capture and NGS to investigate an undefined myopathy reveal RYR1 variants. In BMC Anesthesiology Vol. Suppl 1 (pp. A15 - A15). , 33rd Annual Meeting of the European Malignant Hyperthermia Group (EMHG): Springer Nature
[Conference Abstract]Authored by: Schiemann, A., Stowell, K.Contributed to by: Schiemann, A.
Schiemann, AH., Low, CF., & Stowell, KM. (2014, August). Targeted sequence capture and massively parallel sequencing to detect mutations associated with Malignant Hyperthermia (MH). Presented at 38th Annual Scientific Meeting of the Human Genetics Society of Australasia. Adelaide, Australia.
[Conference Oral Presentation]Authored by: Schiemann, A.
Schiemann, AH., & Stowell, KM. (2013). Malignant Hyperthermia: The search for a new causative gene. Poster session presented at the meeting of Next Generation Sequencing Conference. Palmerston North, New Zealand
[Conference Poster]Authored by: Schiemann, A.
Schiemann, AH., & Stowell, KM. (2013). Exome sequencing to detect a new gene causing Malignant Hyperthermia. Poster session presented at the meeting of qPCR and NGS Symposium & Exhibition & Workshops. Germany
[Conference Poster]Authored by: Schiemann, A.
Schiemann, AH. (2012, May). Comparing different methods to screen patient samples for mutations causing malignant hyperthermia. Presented at European Malignant Hyperthermia Group meeting. Ilkley, United Kingdom.
[Conference Oral Presentation]Authored by: Schiemann, A.
Schiemann, AH., & Stowell, KM. (2011, August). Sequence capture and massively parallel sequencing to detect mutations associated with Malignant Hyperthermia. Presented at New Zealand Next Generation Sequencing Conference. Palmerston North.
[Conference Oral Presentation]Authored by: Schiemann, A., Stowell, K.
Schiemann, AH., & Stowell, KM. (2011). Sequence capture and massively parallel sequencing to detect mutations associated with Malignant Hyperthermia. Poster session presented at the meeting of New Zealand Next Generation Sequencing Conference. Palmerston North
[Conference Poster]Authored by: Schiemann, A., Stowell, K.
Stowell, K., & Schiemann, A. (2011). Exon-capture and massively parallel sequencing to identify a "new" MH gene. , 30th Annual European Malignant Hyperthermia Group
[Conference Abstract]Authored by: Schiemann, A., Stowell, K.
Stowell, K., Schiemann, A., & Paul, N. (2011). In search of a new "Hot" gene. Poster session presented at the meeting of 32nd Lorne Genome Conference. Lorne, VIC, Australia
[Conference Poster]Authored by: Schiemann, A., Stowell, K.
Schiemann, A., Belikoff, E., & Scott, M. (2007). Localised targeting of MOF leads to transcriptional upregulation of reporter genes. Poster session presented at the meeting of Queenstown Molecular Biology. Queenstown
[Conference Poster]Authored by: Schiemann, A.
Laverty, C., Schiemann, AH., Weake, V., Li, F., & Scott, MJ. (2006). Selective transcription response to localised targeting of the MSL complex or MOF HAT. Poster session presented at the meeting of Gordon Research Conference on Chromatin Structure and Function. II Ciocco, Barga, Italy
[Conference Poster]Authored by: Schiemann, A.
Schiemann, AH., Rakonjac, J., Callanan, M., Gordon, J., Polzin, K., Lubbers, MW., . . . O'Toole, PW. (2002). Functional role of origin transcription in the prolate lactococcal bacteriophage C2. Poster session presented at the meeting of Seventh Symposium on Lactic Acid Bacteria: Genetics, Metabolism and Applications. Egmond aan Zee, the Netherlands
[Conference Poster]Authored by: Rakonjac, J., Schiemann, A.

Other

Schiemann, AH., & Stowell, KM. (2015, August). Functional analysis of mutations associated with Malignant Hyperthermia. In Palmerston North Medical Research Foundation (PNMRF) Colloquium.
[Oral Presentation]Authored by: Schiemann, A., Stowell, K.
Schiemann, AH. (2011, August). A new approach to identify mutations causing Malignant Hyperthermia (MH). In Institute of Molecular Biosciences, Massey University, Palmerston North.
[Oral Presentation]Authored by: Schiemann, A.

Teaching and Supervision

Summary of Doctoral Supervision

Position Current Completed
Co-supervisor 2 1

Current Doctoral Supervision

Co-supervisor of:

  • Sophie Burling - Doctor of Philosophy
    Innervated "muscle-on-a-chip" for improved diagnostics and investigation of neuromuscular disorders
  • Jeremy Stephens - Doctor of Philosophy
    Structure/function relationships of RyR1 variants causing malignant hyperthermia

Completed Doctoral Supervision

Co-supervisor of:

  • 2019 - Remai Parker - Doctor of Philosophy
    Functional consequences of RyR1 variants

Media and Links

Media

  • 12 Feb 2014 - Online
    Three families with Ryanodine Receptor mutations..
    Podcast

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