Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy
Inborn errors of Riboflavin (Rf) transport and metabolism have been recently related to severe human neuromuscular disorders, as resulting in profound alteration of human flavoproteome and, therefore, of cellular bioenergetics. This explains why the interest in studying the “flavin world”, a topic w...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-07-01
|
| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/21/15/5310 |
| _version_ | 1797561256222130176 |
|---|---|
| author | Maria Tolomeo Alessia Nisco Piero Leone Maria Barile |
| author_facet | Maria Tolomeo Alessia Nisco Piero Leone Maria Barile |
| author_sort | Maria Tolomeo |
| collection | DOAJ |
| description | Inborn errors of Riboflavin (Rf) transport and metabolism have been recently related to severe human neuromuscular disorders, as resulting in profound alteration of human flavoproteome and, therefore, of cellular bioenergetics. This explains why the interest in studying the “flavin world”, a topic which has not been intensively investigated before, has increased much over the last few years. This also prompts basic questions concerning how Rf transporters and FAD (flavin adenine dinucleotide) -forming enzymes work in humans, and how they can create a coordinated network ensuring the maintenance of intracellular flavoproteome. The concept of a coordinated cellular “flavin network”, introduced long ago studying humans suffering for Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), has been, later on, addressed in model organisms and more recently in cell models. In the frame of the underlying relevance of a correct supply of Rf in humans and of a better understanding of the molecular rationale of Rf therapy in patients, this review wants to deal with theories and existing experimental models in the aim to potentiate possible therapeutic interventions in Rf-related neuromuscular diseases. |
| first_indexed | 2024-03-10T18:12:26Z |
| format | Article |
| id | doaj.art-cf75adc7a0984f2881f177130ad1f634 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T18:12:26Z |
| publishDate | 2020-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-cf75adc7a0984f2881f177130ad1f6342023-11-20T08:02:02ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672020-07-012115531010.3390/ijms21155310Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf TherapyMaria Tolomeo0Alessia Nisco1Piero Leone2Maria Barile3Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70126 Bari, ItalyDepartment of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70126 Bari, ItalyDepartment of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70126 Bari, ItalyDepartment of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70126 Bari, ItalyInborn errors of Riboflavin (Rf) transport and metabolism have been recently related to severe human neuromuscular disorders, as resulting in profound alteration of human flavoproteome and, therefore, of cellular bioenergetics. This explains why the interest in studying the “flavin world”, a topic which has not been intensively investigated before, has increased much over the last few years. This also prompts basic questions concerning how Rf transporters and FAD (flavin adenine dinucleotide) -forming enzymes work in humans, and how they can create a coordinated network ensuring the maintenance of intracellular flavoproteome. The concept of a coordinated cellular “flavin network”, introduced long ago studying humans suffering for Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), has been, later on, addressed in model organisms and more recently in cell models. In the frame of the underlying relevance of a correct supply of Rf in humans and of a better understanding of the molecular rationale of Rf therapy in patients, this review wants to deal with theories and existing experimental models in the aim to potentiate possible therapeutic interventions in Rf-related neuromuscular diseases.https://www.mdpi.com/1422-0067/21/15/5310<i>SLC52As</i><i>FLAD1</i>mitochondrial flavoproteomeflavoprotein subunit-SDHriboflavinRTD |
| spellingShingle | Maria Tolomeo Alessia Nisco Piero Leone Maria Barile Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy International Journal of Molecular Sciences <i>SLC52As</i> <i>FLAD1</i> mitochondrial flavoproteome flavoprotein subunit-SDH riboflavin RTD |
| title | Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy |
| title_full | Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy |
| title_fullStr | Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy |
| title_full_unstemmed | Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy |
| title_short | Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy |
| title_sort | development of novel experimental models to study flavoproteome alterations in human neuromuscular diseases the effect of rf therapy |
| topic | <i>SLC52As</i> <i>FLAD1</i> mitochondrial flavoproteome flavoprotein subunit-SDH riboflavin RTD |
| url | https://www.mdpi.com/1422-0067/21/15/5310 |
| work_keys_str_mv | AT mariatolomeo developmentofnovelexperimentalmodelstostudyflavoproteomealterationsinhumanneuromusculardiseasestheeffectofrftherapy AT alessianisco developmentofnovelexperimentalmodelstostudyflavoproteomealterationsinhumanneuromusculardiseasestheeffectofrftherapy AT pieroleone developmentofnovelexperimentalmodelstostudyflavoproteomealterationsinhumanneuromusculardiseasestheeffectofrftherapy AT mariabarile developmentofnovelexperimentalmodelstostudyflavoproteomealterationsinhumanneuromusculardiseasestheeffectofrftherapy |