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1

Article

Biparental Inheritance of Mitochondrial DNA in Humans (2018)

Luo, Shiyu ; Valencia, C Alexander ; Zhang, Jinglan ; [et al.]

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Language: English

In: Proceedings of the National Academy of Sciences of the United States of America, 18 December 2018, Vol.115(51), pp.13039-13044

Description: Although there has been considerable debate about whether paternal mitochondrial DNA (mtDNA) transmission may coexist with maternal transmission of mtDNA, it is generally believed that mitochondria and mtDNA are exclusively maternally inherited in humans. Here, we identified three unrelated multigeneration families with a high level of mtDNA heteroplasmy (ranging from 24 to 76%) in a total of 17 individuals. Heteroplasmy of mtDNA was independently examined by high-depth whole mtDNA sequencing analysis in our research laboratory and in two Clinical Laboratory Improvement Amendments and College of American Pathologists-accredited laboratories using multiple approaches. A comprehensive exploration of mtDNA segregation in these families shows biparental mtDNA transmission with an autosomal dominantlike inheritance mode. Our results suggest that, although the central dogma of maternal inheritance of mtDNA remains valid, there are some exceptional cases where paternal mtDNA could be passed to the offspring. Elucidating the molecular mechanism for this unusual mode of inheritance will provide new insights into how mtDNA is passed on from parent to offspring and may even lead to the development of new avenues for the therapeutic treatment for pathogenic mtDNA transmission.

Keywords: Biparental Inheritance ; Human Genetics ; Mitochondria ; Mtdna ; Paternal Transmission

ISSN: 00278424

E-ISSN: 1091-6490

DOI: 10.1073/pnas.1810946115

URL: View this record in MEDLINE/PubMed

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Article

Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening (2011)

Chien, Yin-Hsiu ; Lee, Ni-Chung ; Huang, Hsiang-Ju ; [et al.]

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Language: English

In: Journal of Pediatrics, 2011, Vol.158(6), pp.1023-1027.e1

Description: To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.jpeds.2010.11.053 Byline: Yin-Hsiu Chien (a)(b), Ni-Chung Lee (a)(b), Hsiang-Ju Huang (b), Beth L. Thurberg (e), Fuu-Jen Tsai (c), Wuh-Liang Hwu (a)(b)(d) Abbreviations: CK, Creatine kinase; ERT, Enzyme replacement therapy; GMQ, Gross motor quotient; GAA, Acid [alpha]-glucosidase; NBS, Newborn screening; PDMS-II, Peabody Developmental Motor Scale, Second Edition Abstract: To determine whether newborn screening facilitates early detection and thereby early treatment initiation for later-onset Pompe disease. Author Affiliation: (a) Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan (b) Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan (c) College of Chinese Medicine, Taichung, Taiwan (d) Graduate Institute of Integrated Medicine, China Medical University, Taichung, Taiwan (e) Department of Pathology, Genzyme Corporation, Framingham, MA Article History: Received 16 July 2010; Revised 19 October 2010; Accepted 19 November 2010 Article Note: (footnote) Partially supported by a grant from the Taiwanese National Science Council (NSC96-2314-B-002-044-MY3). Y.C. has received honoraria and research grant funding from Genzyme. W.H. has received honoraria, travel funding, and research grant funding from and serves on an advisory board for Genzyme. B.T. is a full-time employee of Genzyme Corporation. The other authors declare no conflicts of interest.

Keywords: Medical Schools ; Enzymes ; Medical Genetics ; Health Screening ; Creatine Kinase ; Newborn Infants ; Creatine

ISSN: 0022-3476

DOI: 10.1016/j.jpeds.2010.11.053

Source: Cengage Learning, Inc.

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3

Article

Parental discussion of G6PD deficiency and child health: implications for clinical practice (2014)

Guan, Yue ; Roter, Debra L ; Huang, Aichu ; [et al.]

BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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Language: English

In: Archives of Disease in Childhood, 29 March 2014, Vol.99(3), p.251

Description: Parents are encouraged to discuss self-care with children affected by G6PD deficiency; however, little is known about the extent or impact of these discussions on the physical and psychosocial health of these children. The purpose of this study was to examine the nature of parental–child discussions of G6PD deficiency self-care and their relationship to child health.

Keywords: Health Knowledge, Attitudes, Practice ; Parent-Child Relations ; Glucosephosphate Dehydrogenase Deficiency -- Psychology ; Parents -- Psychology ; Self Care -- Psychology;

ISSN: 0003-9888

ISSN: 00039888

E-ISSN: 1468-2044

E-ISSN: 14682044

DOI: 10.1136/archdischild-2013-304867

URL: View this record in BMJ Journals

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4

Article

Myostatin and insulin-like growth factor I: potential therapeutic biomarkers for pompe disease (2013)

Yin-Hsiu Chien ; Der-Sheng Han ; Wuh-Liang Hwu ; [et al.]

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Language: English

In: PLoS ONE, 01 January 2013, Vol.8(8), p.e71900

Description: OBJECTIVE: Myostatin and insulin-like growth factor 1 (IGF-1) are serum markers for muscle growth and regeneration. However, their value in the clinical monitoring of Pompe disease - a muscle glycogen storage disease - is not known. In order to evaluate their possible utility for disease monitoring, we assessed the levels of these serum markers in Pompe disease patients receiving enzyme replacement therapy (ERT). DESIGN: A case-control study that included 10 patients with Pompe disease and 10 gender- and age-matched non-Pompe disease control subjects was performed in a referral medical center. Average follow-up duration after ERT for Pompe disease patients was 11.7 months (range: 6-23 months). Measurements of serum myostatin, IGF-1, and creatine kinase levels were obtained, and examinations of muscle pathology were undertaken before and after ERT in the patient group. RESULTS: Compared with control subjects, Pompe disease patients prior to undergoing ERT had significantly lower serum IGF-1 levels (98.6 ng/ml vs. 307.9 ng/ml, p = 0.010) and lower myostatin levels that bordered on significance (1.38 ng/ml vs. 3.32 ng/ml, p = 0.075). After ERT, respective myostatin and IGF-1 levels in Pompe disease patients increased significantly by 129% (from 1.38 ng/ml to 3.16 ng/ml, p = 0.047) and 74% (from 98.6 ng/ml to 171.1 ng/ml, p = 0.013); these values fall within age-matched normal ranges. In contrast, myostatin and IGF-1 serum markers did not increase in age-matched controls. Follistatin, a control marker unrelated to muscle, increased in both Pompe disease patients and control subjects. At the same time, the percentage of muscle fibers containing intracytoplasmic vacuoles decreased from 80.0±26.4% to 31.6±45.3%. CONCLUSION: The increase in myostatin and IGF-1 levels in Pompe disease patients may reflect muscle regeneration after ERT. The role of these molecules as potential therapeutic biomarkers in Pompe disease and other neuromuscular diseases warrants further study.

Keywords: Sciences (General)

E-ISSN: 1932-6203

DOI: 10.1371/journal.pone.0071900

URL: View full text in DOAJ

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5

Article

Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening (2011)

Chien, Yin-Hsiu ; Lee, Ni-Chung ; Huang, Hsiang-Ju ; [et al.]

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Language: English

In: The Journal of Pediatrics, 2011, Vol.158(6), pp.1023-1027.e1

Description: To determine whether newborn screening facilitates early detection and thereby early treatment initiation for later-onset Pompe disease. We have conducted a newborn screening program since 2005. Newborns with deficient skin fibroblast acid α-glucosidase activity and two acid α-glucosidase gene mutations but no cardiomyopathy were defined as having later-onset Pompe disease, and their motor development and serum creatine kinase levels were monitored every 3 to 6 months. Among 344 056 newborns, 13 (1 in 26 466) were found to have later-onset Pompe disease. During a follow-up period of up to 4 years, four patients were treated because of hypotonia, muscle weakness, delayed developmental milestones/motor skills, or elevated creatine kinase levels starting at the ages of 1.5, 14, 34, and 36 months, respectively. Muscle biopsy specimens obtained from the treated patients revealed increased storage of glycogen and lipids. Newborn screening was found to facilitate the early detection of later-onset Pompe disease. A subsequent symptomatic approach then identifies patients who need early treatment initiation.

Keywords: Medicine

ISSN: 0022-3476

E-ISSN: 1097-6833

DOI: 10.1016/j.jpeds.2010.11.053

URL: View record in ScienceDirect (Access to full text may be restricted)

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6

Article

Lyso-globotriaosylsphingosine (lyso-Gb 3 ) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G〉A mutation (2013)

Chien, Yin-Hsiu ; Bodamer, Olaf ; Chiang, Shu-Chuan ; [et al.]

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Language: English

In: Journal of Inherited Metabolic Disease, 2013, Vol.36(5), pp.881-885

Description: Lyso-globotriaosylsphingosine (lyso-Gb 3 ) is a useful biomarker in the diagnosis and monitoring of treatment for Fabry disease. However, it is unclear whether lyso-Gb 3 is elevated in patients with later-onset Fabry disease. Thus, we measured lyso-Gb 3 levels from dried blood spots (DBS) from male newborns with the Fabry disease later-onset phenotype, IVS4+919G〉A mutation, and their family members. The lyso-Gb 3 levels were below the detection limit in normal control newborns and were slightly higher in adults. In males of all ages with the IVS4+919G〉A mutation, lyso-Gb 3 levels were elevated and were higher than in age-matched controls. The elevation of lyso-Gb 3 levels in males with the IVS4+919G〉A mutation was only slightly elevated compared with patients with the classical Fabry phenotype. The measurement of lyso-Gb 3 levels is useful in the diagnosis of Fabry disease, including the later-onset phenotype. The DBS lyso-Gb 3 level was not elevated in IVS4+919G〉A heterozygotes, and is not useful for their diagnosis. Since lyso-Gb 3 levels are elevated from birth in Fabry disease males, “an elevated lyso-Gb 3 level” may be of little values for deciding when to begin enzyme replacement therapy.

Keywords: Enzymes -- Genetic Aspects ; Adults ; Newborn Infants ; Medical Schools ; Medical Genetics;

ISSN: 0141-8955

E-ISSN: 1573-2665

DOI: 10.1007/s10545-012-9547-1

URL: View full text in Springer (Subscribers only)

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7

Article

Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease (2011)

Chien, Yin-Hsiu ; Olivova, Petra ; Zhang, Xiaokui Kate ; [et al.]

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Language: English

In: Molecular Genetics and Metabolism, 2011, Vol.102(1), pp.57-60

Description: Fabry disease is caused by a deficiency of α-galactosidase A (α-Gal A), which results in the accumulation of globotriaosylceramide (GL3) and related glycosphingolipids in different organs. Urinary GL3 levels increase in symptomatic Fabry disease patients, but it is not clear whether urinary GL3 excretion also increases in young or pre-symptomatic patients. Eighty-nine newborns with leukocyte α-Gal A activities of less than 30% of the normal mean were discovered by newborn screening. Urine samples were collected on filter paper, and GL3 levels were measured using liquid chromatography–tandem mass spectrometry. Five newborns with classic Fabry disease mutations all had elevated urinary GL3 levels (mean = 5.2 mg/mmol creatinine (creat.), range = 0.80–14.39, normal 〈 0.6). Among the 84 newborns with later-onset mutations, 45 (54%) had a mild elevation of urinary GL3 levels (mean = 1.1 mg/mmol creat., range = 0.60–3.07, normal 〈 0.6). The urinary GL3 levels decreased in all newborns over the course of a three-year follow-up period. However, four children with classic mutations and seven with IVS4+919G〉A mutations still had elevated GL3 levels at the end of the study. Elevated urinary GL3 levels can be present at birth in Fabry disease patients, suggesting an early involvement of the kidneys in this disease. The increased urinary GL3 excretion in those with later-onset mutations supports a pathogenic role for these mutations.

Keywords: Urinary Globotriaosylceramide ; Gl3 ; Fabry Disease ; Newborn Screening ; Α-Galactosidase A ; Biology ; Chemistry ; Anatomy & Physiology

ISSN: 1096-7192

E-ISSN: 1096-7206

DOI: 10.1016/j.ymgme.2010.08.023

URL: View record in ScienceDirect (Access to full text may be restricted)

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8

Article

Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease (2012)

Chien, Yin-Hsiu ; Lee, Ni-Chung ; Huang, Pei-Hsin ; [et al.]

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Language: English

In: Pediatric Neurology, March 2012, Vol.46(3), pp.168-171

Description: The treatment of later-onset Pompe disease with enzyme replacement therapy may not lead to significant improvement in muscle function, probably because of the irreversible muscle destruction caused by glycogen storage. A prospective study was performed to understand early muscle pathology in patients and the response of these pathologic changes to treatment. Five newborns and one child with later-onset Pompe disease but no signs at time of diagnosis were prospectively followed, and treatment was initiated when signs appeared. Six pretreatment biopsies taken at ages 1.5 months to 7 years indicated glycogen storage, lipid storage, stage 4 myocytes, and autophagic debris. Four 6-month posttreatment biopsies revealed glycogen clearance, but stage 4 myocytes and autophagic debris were still evident in three. In conclusion, among patients with later-onset Pompe disease and very mild signs, advanced pathologic changes were evident in a small portion of their myocytes. Because these pathologic changes may not respond to treatment, early treatment is necessary to achieve the best outcomes.

Keywords: Medicine

ISSN: 0887-8994

E-ISSN: 1873-5150

DOI: 10.1016/j.pediatrneurol.2011.12.010

URL: View record in ScienceDirect (Access to full text may be restricted)

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9

Article

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening (2017)

Chien, Yin-Hsiu ; Chiang, Shu-Chuan ; Weng, Wen-Chin ; [et al.]

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Language: English

In: The Journal of Pediatrics, November 2017, Vol.190, pp.124-129.e1

Description: To demonstrate the feasibility of presymptomatic diagnosis of spinal muscular atrophy (SMA) through newborn screening (NBS). We performed a screening trial to assess all newborns who underwent routine newborn metabolic screening at the National Taiwan University Hospital newborn screening center between November 2014 and September 2016. A real-time polymerase chain reaction (RT-PCR) genotyping assay for the intron 7 c.888+100A/G polymorphism was performed to detect homozygous deletion using dried blood spot (DBS) samples. Then the exon 7 c.840C〉T mutation and copy number were determined by both droplet digital PCR (ddPCR) using the original screening DBS and multiplex ligation-dependent probe amplification (MLPA) using a whole blood sample. Of the 120 267 newborns, 15 tested positive according to the RT-PCR assay. The DBS ddPCR assay excluded 8 false-positives, and the other 7 patients were confirmed by the MLPA assay. Inclusion of the second-tier DBS ddPCR screening assay resulted in a positive prediction value of 100%. The incidence of SMA was 1 in 17 181 (95% CI, 1 in 8323 to 1 in 35 468). Two of the 3 patients with 2 copies of and all 4 patients with 3 or 4 copies of were asymptomatic at the time of diagnosis. Five of the 8 false-positives were caused by intragenic recombination between and . Newborn screening can detect patients affected by SMA before symptom onset and enable early therapeutic intervention. A combination of a RT-PCR and a second-tier ddPCR can accurately diagnose SMA from DBS samples with no false-positives. NCT02123186.

Keywords: Spinal Muscular Atrophy ; Newborn Screening ; Recombination ; Real-Time Pcr ; Smn1 ; Medicine

ISSN: 0022-3476

E-ISSN: 1097-6833

DOI: 10.1016/j.jpeds.2017.06.042

URL: View record in ScienceDirect (Access to full text may be restricted)

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10

Article

Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth (2015)

Chien, Yin-Hsiu ; Lee, Ni-Chung ; Chen, Chun-An ; [et al.]

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Language: English

In: The Journal of Pediatrics, April 2015, Vol.166(4), pp.985-991.e2

Description: To determine the benefit of newborn screening for the long-term prognosis of patients with classic infantile-onset Pompe disease (IOPD). A cohort of patients with classic IOPD were diagnosed by newborn screening, treated with recombinant human acid α-glucosidase (rhGAA), and followed prospectively. Outcome measurements included survival, left ventricular mass, serum creatinine kinase, motor function, mental development, and systemic manifestations. Ten patients who presented with left ventricular hypertrophy at diagnosis received rhGAA infusions starting at a median age of 16 days (6-34 days). All patients were cross-reactive immunologic material-positive. After a median treatment time of 63 months (range 28-90 months), all could walk independently, and none required mechanical ventilation. All patients had motor capability sufficient for participating in daily activities, but muscle weakness over the pelvic girdle appeared gradually after 2 years of age. Ptosis was present in one-half of the patients, and speech disorders were common. Anti-rhGAA antibody titers were low (median maximal titer value 1:1600, range: undetectable ∼ 1:12 800). By studying patients treated since birth who have no significant anti-rhGAA antibody interference, this prospective study demonstrates that the efficacy of rhGAA therapy is high and consistent for the treatment of classic IOPD. This study also exposes limitations of rhGAA treatment. The etiology of the manifestations in these early-treated patients will require further study.

Keywords: Medicine

ISSN: 0022-3476

E-ISSN: 1097-6833

DOI: 10.1016/j.jpeds.2014.10.068

URL: View record in ScienceDirect (Access to full text may be restricted)

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Berlin Brandenburg