Methylation-associated pathways in Macular Telangiectasia Type 2 and ophthalmologic findings in patients with genetic methylation disorders
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Methylation-associated pathways in Macular Telangiectasia Type 2 and ophthalmologic findings in patients with genetic methylation disorders. / Pauleikhoff, Laurenz; Wingert, Victoria; Grünert, Sarah C; Lange, Clemens; Hannibal, Luciana; Bucher, Felicitas.
in: RETINA-J RET VIT DIS, Jahrgang 44, Nr. 6, 01.06.2024, S. 1052-1062.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Methylation-associated pathways in Macular Telangiectasia Type 2 and ophthalmologic findings in patients with genetic methylation disorders
AU - Pauleikhoff, Laurenz
AU - Wingert, Victoria
AU - Grünert, Sarah C
AU - Lange, Clemens
AU - Hannibal, Luciana
AU - Bucher, Felicitas
PY - 2024/6/1
Y1 - 2024/6/1
N2 - PURPOSE: Serine (Ser) and glycine (Gly) levels were reported to differ between patients with macular telangiectasia type 2 (MacTel) compared with healthy controls. Because they are closely related to methylation metabolism, this report investigates methylation-associated metabolite levels in patients with MacTel and retinal changes in monogenetic methylation disorders.METHODS: Prospective, monocentric study on patients with MacTel and healthy controls underwent a standardized protocol including a blood draw. Methylation-associated metabolite levels in plasma were determined using targeted quantitative metabolomics. Furthermore, patient records of cystathionine beta-synthase, methylenetetrahydrofolate reductase, and methylmalonic aciduria and homocystinuria type C protein (MMACHC) deficiency were screened for reported retinal changes.RESULTS: In total, 29 patients with MacTel and 27 healthy controls were included. Patients with MacTel showed lower plasma Ser ( P = 0.02 and P = 0.01) and Gly ( P = 0.11 and P = 0.11) levels than controls. Principal component analyses revealed that methylation-associated metabolite, especially homocysteine, contributed to a distinct clustering of patients with MacTel. No retinal changes were seen in cystathionine beta-synthase (n = 1) and methylenetetrahydrofolate reductase (n = 2) deficiency, while two patients with MMACHC (n = 4) deficiency displayed extensive macular dystrophy.CONCLUSION: Patients with MacTel show distinct clustering of methylation-associated metabolite compared with controls. Of the three homocystinurias, only MMACHC resulted in macular dystrophy, possibly due to distinct compensatory pathways.
AB - PURPOSE: Serine (Ser) and glycine (Gly) levels were reported to differ between patients with macular telangiectasia type 2 (MacTel) compared with healthy controls. Because they are closely related to methylation metabolism, this report investigates methylation-associated metabolite levels in patients with MacTel and retinal changes in monogenetic methylation disorders.METHODS: Prospective, monocentric study on patients with MacTel and healthy controls underwent a standardized protocol including a blood draw. Methylation-associated metabolite levels in plasma were determined using targeted quantitative metabolomics. Furthermore, patient records of cystathionine beta-synthase, methylenetetrahydrofolate reductase, and methylmalonic aciduria and homocystinuria type C protein (MMACHC) deficiency were screened for reported retinal changes.RESULTS: In total, 29 patients with MacTel and 27 healthy controls were included. Patients with MacTel showed lower plasma Ser ( P = 0.02 and P = 0.01) and Gly ( P = 0.11 and P = 0.11) levels than controls. Principal component analyses revealed that methylation-associated metabolite, especially homocysteine, contributed to a distinct clustering of patients with MacTel. No retinal changes were seen in cystathionine beta-synthase (n = 1) and methylenetetrahydrofolate reductase (n = 2) deficiency, while two patients with MMACHC (n = 4) deficiency displayed extensive macular dystrophy.CONCLUSION: Patients with MacTel show distinct clustering of methylation-associated metabolite compared with controls. Of the three homocystinurias, only MMACHC resulted in macular dystrophy, possibly due to distinct compensatory pathways.
KW - Adult
KW - Aged
KW - Amino Acid Metabolism, Inborn Errors/genetics
KW - Female
KW - Fluorescein Angiography/methods
KW - Glycine
KW - Homocystinuria/genetics
KW - Humans
KW - Male
KW - Methylation
KW - Middle Aged
KW - Prospective Studies
KW - Retinal Telangiectasis/diagnosis
KW - Tomography, Optical Coherence
U2 - 10.1097/IAE.0000000000004052
DO - 10.1097/IAE.0000000000004052
M3 - SCORING: Journal article
C2 - 38261977
VL - 44
SP - 1052
EP - 1062
JO - RETINA-J RET VIT DIS
JF - RETINA-J RET VIT DIS
SN - 0275-004X
IS - 6
ER -