Citations 3
Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories
Basheeruddin, Khaja, Burlina, Alberto , Chen, Hsiao-Jan, Dizikes, George J. , Dorley, M. Christine , Giugliani, Roberto , Hietala, Amy, Kao, Shu‐Min, Klug, Tracy, Kubaski, Francyne , Liao, Hsuan-Chieh , Martin, Monica, Manning, Adrienne, Orsini, Joseph J. , Peng, Yin , Ranieri, Enzo , Rohrwasser, Andreas , Szabo‐Fresnais, Nicolas, Turgeon, Coleman , Wang, Liyun , Matern, Dietrich , Burlina, Alberto , Chien, Yin-Hsiu , Dorley, Christine , Giugliani, Roberto , Kubaski, Francyne , Turgeon, Coleman T, Matern, Dietrich , Gelb, Michael H. , Hong, Xinying , Khaledi, Hamid , Vaz, F
International Journal of Neonatal Screening | November 28, 2022 | Volume: 8 | Issue: 4 | Pages: 62
Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the MS/MS applications in NBS, the most common is flow-injection analysis (FIA-) MS/MS, where the sample is introduced as a bolus injection into the mass spectrometer without the prior fractionation of analytes. Liquid chromatography combined with MS/MS (LC-MS/MS) has been employed for second-tier tests to reduce the false-positive rate associated with several nonspecific screening markers, beginning two decades ago. More recently, LC-MS/MS has been applied to primary screening for new conditions for which FIA-MS/MS or other methods, including genomic screening, are not yet adequate. In addition to providing a list of the currently used LC-MS/MS-based assays for NBS, the authors share their experience regarding the maintenance requirements of LC-MS/MS vs. FIA-MS/MS systems. The consensus is that the maintenance of LC-MS/MS and FIA-MS/MS instrumentation is similar, and LC-MS/MS has the advantage of allowing for a larger number of diseases to be screened for in a multiplex, cost-effective fashion with a high throughput and an adequate turnaround time.
Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments
Luo, Shiyu , Valencia, C. Alexander , Lee, Ni‐Chung , Slone, Jesse , Gui, Baoheng , Wang, Xinjian , Dell, Sarah, Brown, Jenice, Chen, Stella Maris, Hwu, Wuh‐Liang , Fan, Pi‐Chuan , Wong, Lee‐Jun C. , Huang, Taosheng , Li, Zhuo , Zhang, Jinglan , Li, Zhuo , Chien, Yin-Hsiu , Atwal, Paldeep S
Proceedings of the National Academy of Sciences | January 23, 2019 | Volume: 116 | Issue: 6 | Pages: 1823-1824
Biparental Inheritance of Mitochondrial DNA in Humans
Luo, Shiyu , Valencia, C. Alexander , Zhang, Jinglan , Lee, Ni‐Chung , Slone, Jesse , Gui, Baoheng , Wang, Xinjian , Li, Zhuo , Dell, Sarah, Brown, Jenice, Chen, Stella Maris, Hwu, Wuh‐Liang , Fan, Pi‐Chuan , Wong, Lee-Jun, Huang, Taosheng , Li, Zhuo , Chien, Yin-Hsiu , Atwal, Paldeep S
Proceedings of the National Academy of Sciences | November 26, 2018 | Volume: 115 | Issue: 51 | Pages: 13039-13044
Significance The energy-producing organelle mitochondrion contains its own compact genome, which is separate from the nuclear genome. In nearly all mammals, this mitochondrial genome is inherited exclusively from the mother, and transmission of paternal mitochondria or mitochondrial DNA (mtDNA) has not been convincingly demonstrated in humans. In this paper, we have uncovered multiple instances of biparental inheritance of mtDNA spanning three unrelated multiple generation families, a result confirmed by independent sequencing across multiple unrelated laboratories with different methodologies. Surprisingly, this pattern of inheritance appears to be determined in an autosomal dominantlike manner. This paper profoundly alters a widespread belief about mitochondrial inheritance and potentially opens a novel field in mitochondrial medicine.